Nonisotopic in Situ Hybridization

Clinical Cytogenetics and Gene Mapping Applications
  • Matteo Adinolfi
  • John Crolla
Part of the Advances in Human Genetics book series (AHUG, volume 22)


The detection of DNA or RNA sequences in cells in interphase or metaphase can readily be achieved by in situ hybridization procedures based on the specific annealing of sequences (probes), previously labeled with appropriate reporter molecules, to their corresponding genomic DNA or RNA regions. Under special conditions, stable complexes are formed that can be visualized.


Duchenne Muscular Dystrophy Marker Chromosome Metaphase Spread Duchenne Muscular Dystrophy Patient Dystrophin Gene 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Adinolfi, M., 1992a, Fetal nucleated cells in the maternal circulation, in: Prenatal Diagnosis and Screening (D.J.H. Brock, C.H. Rodeck, and M.A. Ferguson-Smith, eds.), London pp. 651–662, Churchill Livingstone, Edinburgh.Google Scholar
  2. Adinolfi, M., 1992b, Breaking the blood barrier, Nature Genet. 1:316–318.PubMedCrossRefGoogle Scholar
  3. Adinolfi, M., 1993, Hunter syndrome: Cloning of the gene, mutations and carrier detection, Dev. Med. Child Neurol. 35:79–85.PubMedCrossRefGoogle Scholar
  4. Adinolfi, M., and Davies, A.F., 1994, Non-isotopic In Situ Hybridization: Applications to Clinical Diagnosis and Molecular Genetics, RG Landes, Austin, Texas.Google Scholar
  5. Adinolfi, M., Davies, A., Sharif, S., Soothill, P., and Rodeck, C., 1993, Detection of trisomy 18 and Y-derived sequences in fetal nucleated cells obtained by transcervical flushing, Lancet 342:403–404.PubMedCrossRefGoogle Scholar
  6. Adinolfi, M., Soothill, P., and Rodeck, C., 1994, A simple alternative to amniocentesis? Prenat. Diagn. 14:231–233.PubMedCrossRefGoogle Scholar
  7. Adinolfi, M., Stone, S., and Moralli, D., 1992, Carrier detection of deletions in female relatives of X-linked disorders by nonisotopic in situ hybridization, BioEssays 14:421–426.PubMedCrossRefGoogle Scholar
  8. Albertson, H.M., Abderrahim, H., Cann, H.M., Dausset, J., Le Paslier, D., and Cohen, D., 1990, Construction and characterization of a yeast artificial chromosome library containing seven haploid genome equivalents, Proc. Natl. Acad. Sci. USA 87:4256–4262.CrossRefGoogle Scholar
  9. American College of Medical Genetics, 1993, Prenatal interphase fluorescence in situ hybridization (FISH) policy statement, Am. J. Hum. Genet. 53:526–527.Google Scholar
  10. Anastasis, J., LeBeau, M.M., Vardiman, J.W., and Westbrook, C.A., 1990, Detection of numerical chromosomal abnormalities in neoplastic hematopoietic cells by in situ hybridization with a chromosome-specific probe, Am. J. Pathol. 136:131–139.Google Scholar
  11. Arahata, K., Hoffman, E.P., Kunkel, L.M., Ishihura, S., Tsukahara, T., Ishihara, T., Sunohara, N., Nonaka, I., Ozawa, E., and Sugita, H., 1989, Dystrophin diagnosis: Comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses, Proc. Natl. Acad. Sci. USA 86:7154–7158.PubMedCrossRefGoogle Scholar
  12. Arias, S., 1971, Genetic heterogeneity in the Waardenburg syndrome, Birth Defects Original Article Series 7:87–101.Google Scholar
  13. Arnoldus, E.P.J., Peters, A.C.B., Bots, G.T.A.M., Raap, A.K., and Van der Ploeg, M., 1989, Somatic pairing of chromosome 1 centromeres in interphase nuclei of human cerebellum, Hum. Genet. 83:231–234.PubMedCrossRefGoogle Scholar
  14. Arnoldus, E.P.J., Noordermeer, I.A., Boudewijn Peters, A.C., Voormolen, J.H.C., Bots, G.T.A.M., Raap, A.K., and Van der Ploeg, M., 1991, Interphase cytogenetics of brain tumors, Genes Chromosomes Cancer 3:101–107.PubMedCrossRefGoogle Scholar
  15. Arnoldus, E.P.J., Wiegant, J., Noordermeer, I.A., Wessels, J.W., Baverstock, G.C., Grosveld, G.C., Vander Ploeg, M., and Rapp, A.K., 1990, Detection of the Philadelphia chromosome in interphase nuclei, Cytogenet. Cell Genet. 54:108–111.PubMedCrossRefGoogle Scholar
  16. Asher, J.H., and Friedman, T.B., 1990, Mouse and hamster mutants as models for Waardenburg syndrome in humans, J. Med. Genet. 27:618–626.PubMedCrossRefGoogle Scholar
  17. Asher, J.H., Jr., Morell, R., and Friedman, T.B., 1991, Waardenburg syndrome (WS): The analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q, Am. J. Hum. Genet. 48:43–52.PubMedGoogle Scholar
  18. Atchison, L., Cannizzaro, L., Caamano, J., Atchison, M., and Comis, R.L., 1990, Assignment of 35 single-copy and 17 repetitive sequence DNA probes to human chromosome 3: High-resolution physical mapping of seven DNA probes by in situ hybridization, Genomics 6:441–450.PubMedCrossRefGoogle Scholar
  19. Baldini, A., Rocchi, M., Archidiacono, N., Miller, O.J., and Miller, D.A., 1990, A human alpha satellite DNA subset specific for chromosome 12, Am. J. Hum. Genet. 46:784–788.PubMedGoogle Scholar
  20. Baldini, A., Ross, M., Nizetic, D., Vatchvea, R., Lindsay, E.A., Lehrach, H., and Siniscalco, M., 1992, Chromosomal assignment of human YAC clones by fluorescent in situ hybridization: Use of single-yeast-colony PCR and multiple labeling, Genomics 14:181–184.PubMedCrossRefGoogle Scholar
  21. Baldini, A., and Ward, D.C., 1991, In situ hybridization banding of human chromosomes with Alu-PCR products: A simultaneous karyotype for gene mapping studies, Genomics 9:770–774.PubMedCrossRefGoogle Scholar
  22. Baldwin, C.T., Hoth, C.F., Amos, J.A., da Silva, E.O., and Milunsky, A., 1992, An exonic mutation in the HuP2 paired domain gene causes Waardenburg syndrome, Nature 355:637–638.PubMedCrossRefGoogle Scholar
  23. Barber, L., and Crichter, R., 1994, quoted in Adinolfi, M., and Davies, A., Non-isotopic In Situ Hybridization: Applications to Clinical Diagnosis and Molecular Genetics, R.G. Landes, Austin, Texas.Google Scholar
  24. Bartsch, O., and Schwinger, E., 1991, A simplified protocol for fluorescence in situ hybridization with repetitive DNA probes and its use in clinical cytogenetics, Clin. Genet. 40:47–56.PubMedCrossRefGoogle Scholar
  25. Baumgartner, M., Dutrillaux, B., Lemieux, N., Lilienbaum, A., Paulin, D., and Viegas-Pequignot, E., 1991, Genes occupy a fixed and symmetrical position on sister chromatids, Cell 64:761–766.PubMedCrossRefGoogle Scholar
  26. Baurmann, H., Cherif, D., and Berger, R., 1993, Interphase cytogenetics by fluorescent in situ hybridization (FISH) for characterization of monosomy-7-associated myeloid disorders, Leukemia 7:384–391.PubMedGoogle Scholar
  27. Beggs, A.H., Koenig, M., Boyce, FM., and Kunkel, L.M., 1990, Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction, Hum. Genet. 86:45–48.PubMedCrossRefGoogle Scholar
  28. Benson, RF, and Fensom, A.H., 1985, Genetic Biochemical Disorders, Oxford University Press, Oxford, England.Google Scholar
  29. Bianchi, D.W., Flint, A.F., Pizzimenti, M.F., Knoll, J.H.M., and Latt, S.A., 1990, Isolation of fetal DNA from nucleated erythrocytes in maternal blood, Proc. Natl. Acad. Sci. USA 87:3279–3283.PubMedCrossRefGoogle Scholar
  30. Bianchi, D.W., and Klinger, K.W., 1993, Prenatal diagnosis through the analysis of fetal cells in the maternal circulation, in: Genetic Disorders of the Fetus (A. Milunsky, ed.), pp. 759–770, The Johns Hopkins University Press, Baltimore.Google Scholar
  31. Bird, T.D., Ott, J., and Giblett, E.R., 1982, Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1, Am. J. Hum. Genet. 34:388–394.PubMedGoogle Scholar
  32. Blennow, E., Telenius, H., Larsson, C., Devos, D., Bajalica, S., Ponder, B.A.J., and Nordenskjold, M., 1992, Complete characterization of a large marker chromosome by reverse and forward chromosome painting, Hum. Genet. 90:371–374.PubMedCrossRefGoogle Scholar
  33. Bobrow, M., and Madan, K., 1973, A comparison of chimpanzee and human chromosomes, using the Giemsa-11 and other chromosome-banding techniques, Cytogenet. Cell Genet. 12:107–116.PubMedCrossRefGoogle Scholar
  34. Bonilla, E., Samitt, C.E., Miranda, A.F., Hays, A., Salviati, G., Di Mauro, S., Kunkel, L.M., Hoffman, E.P., and Rowland, L.P., 1988, Duchenne muscular dystrophy: Deficiency of dystrophin at the muscle cell surface, Cell 54:447–452.PubMedCrossRefGoogle Scholar
  35. Borden, J., and Manuelidis, L., 1988, Movement of the X chromosome in epilepsy, Science 242:1687–1691.PubMedCrossRefGoogle Scholar
  36. Borrow, J., Black, D.M., Goddard, A.D., Yagle, M.K., Friscaut, A.-M., and Solomon, E., 1991, Construction and regional localization of clones from a NotI linking library from human chromosome 17q, Genomics 10:477–480.PubMedCrossRefGoogle Scholar
  37. Borrow, J., Goddard, A.D., Sheer, D., and Solomon, E., 1990, Molecular analysis of acute promyelocytic leukemia breakpoint cluster region on chromosome 17, Science 249:1577–1580.PubMedCrossRefGoogle Scholar
  38. Borström, G.H., 1981, New types of unusual and complex Philadelphia chromosome (Ph1) translocation in chronic myeloid leukemia, Cancer Genet. Cytogenet. 18:215–220.Google Scholar
  39. Brandriff, B., Gordon, L., and Trask, B., 1991, A new system for high-resolution DNA sequence mapping in interphase pronuclei, Genomics 10:75–82.PubMedCrossRefGoogle Scholar
  40. Brauch, H., Tory, K., Kotier, F., Gazdar, A.F., Pettingill O., Johnson, B., Graziano, S., Winton, T., Buys, C.H., Sorenson, G.D., Poiesz, B.J., Minna, J.D., and Zbar, B., 1990, Molecular mapping of deletion sites in the short arm of chromosome 3 in human lung cancer, Genes Chrom. Cancer 1:247–255.CrossRefGoogle Scholar
  41. Breuning, M.H., Dauwerse, H.G., Fugazza, G., Saris, J.J., Spruit, L., Wijnen, H., Tommerup, N., Vanderhagen, C.B., Imaizumi, K., Kuroki, Y., Vandenboogaard, M.J., Depater, J.M., Marimam, E.C.M., Hamel, B.C.J., Himmelbauer, H., Frischauf, A.M., Stallings, R.L., Beverstock, G.C., Van Ommen, G.J.B., and Hennekam, R.C.N., 1993, Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16pl3.3, Am. J. Hum. Genet. 52:249–254.PubMedGoogle Scholar
  42. Brothman, A.R., and Patel, A.M., 1992, Characterization of 10 marker chromosomes in a prostatic cancer cell line by in situ hybridization, Cytogenet. Cell Genet. 60:8–11.PubMedCrossRefGoogle Scholar
  43. Brousseau, G.E., 1960, Genetic analysis of the male fertility factors on the Y chromosome of Drosophila melanogaster, Genetics 44:257–274.Google Scholar
  44. Brownstein, B.H., Silverman, G.A., Little, R.D., Burke, D.T., Korsmeyer, S.J., Schlessinger, D., and Olson, M.V., 1989, Isolation of single-copy human genes from a library of yeast artificial chromosome clones, Science 244:1348–1351.PubMedCrossRefGoogle Scholar
  45. Buckle, V.J., and Craig, I.W., 1986, In situ hybridization, in: Human Genetic Diseases (K.E. Davies, ed.), pp. 85–100, IRL Press, Oxford, England.Google Scholar
  46. Buckton, K.E., Spowart, G., Newton, M.S., and Evans, H.Y., 1985, Forty-four probands with an additional “marker chromosome,” Hum. Genet. 69:353–370.PubMedCrossRefGoogle Scholar
  47. Budarf, M., Sellinger, B., Griffin, C., and Emanuel, B.S., 1989, Comparative mapping of the constitutional and tumor-associated 11;22 translocations, Am. J. Hum. Genet. 45:128–139.PubMedGoogle Scholar
  48. Bunyan, D.J., Robinson, D.O., Collins, A.L., Cockwell, A.E., Bullman, H.M.S., and Whittaker, P.A., 1994a, Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophy, Hum. Genet. 93:541–544.PubMedCrossRefGoogle Scholar
  49. Bunyan, D.J., Crolla, J. A., Collins, A.L., and Robinson, D.O., 1994b, Fluorescent in situ hybridization studies provide evidence for a high level of somatic mosaicism in de novo dystrophin gene mutations, Hum. Genet. (in press).Google Scholar
  50. Buongiorno-Nardelli, M., and Amaldi, F., 1969, Autoradiographic detection of molecular hybrids between rRNA and DNA in tissue sections, Nature 225:946–947.CrossRefGoogle Scholar
  51. Burgoyne, PS., 1987, The role of the mammalian Y chromosome in spermatogenesis, Development 101:133–141.PubMedGoogle Scholar
  52. Burns, J., Chan, V.T.W., Jonasson, J.A., Fleming, K.A., Taylor, S., and McGee, J.O’D, 1985, Sensitive system for visualizing biotinylated DNA probes hybridized in situ: Rapid sex determination of intact cells, J. Clin. Pathol. 38:1085–1092.PubMedCrossRefGoogle Scholar
  53. Callen, D.F., Eyre, H.J., Ringenbergs, M.L., Freemantle, C.J., Woodroffe, P., and Haan, E.A., 1991, Chromosomal origin of small ring marker chromosomes in man: Characterization by molecular genetics, Am. J. Hum. Genet. 48:769–782.PubMedGoogle Scholar
  54. Callen, D.F, Eyre, H.J., Yip, M. Y., Freemantle, J., and Haan, E.A., 1992, Molecular cytogenetic and clinical studies of 42 patients with marker chromosomes, Am. J. Med. Genet. 43:709–715.PubMedCrossRefGoogle Scholar
  55. Callen, D.F, Ringenbergs, M.L., Fowler, J.C.S., Freemantle, J., and Haan, E.A., 1990, Small marker chromosomes in man: Origin from pericentric heterochromatin of chromosomes 1,9, and 16, J. Med. Genet. 27:155–159.PubMedCrossRefGoogle Scholar
  56. Carey, A.H., Kelly, D., Halford, S., Wadey, R., Wilson, D., Goodship, J., Burn, J., Paul, T., Sharkey, A., Dumanski, J., Nordenskjold, M., Williamson, R., and Scambler, P.J., 1992, Molecular genetic study of the frequency of monosomy 22qll in DiGeorge syndrome, Am. J. Hum. Genet. 51:964–970.PubMedGoogle Scholar
  57. Carter, N.P., Ferguson-Smith, M.A., Perryman, M.T., Telenius, H., Pelmear, A.H., Leversha, M.A., Glancy, M.T, Wood, S.L., Cook, K., Dyson, H.M., Ferguson-Smith, M.E., and Willatt, L.R., 1992, Reverse chromosome painting: A method for the rapid analysis of aberrant chromosomes in clinical cytogenetics, J. Med. Genet. 29:299–307.PubMedCrossRefGoogle Scholar
  58. Chamberlain, J.S., Gibbs, R. A., Ranier, J.E., and Caskey, C.T., 1989, Multiplex PCR for diagnosis of Duchenne muscular dystrophy, in: PCR Protocols: A Guide To Methods and Applications (M. Innis, D. Gelfand, J. Sninski, and T. White, eds.), pp. 272–281, Academic Press, New York.Google Scholar
  59. Chance, RF, Abbas, N., Lensch, M.W., Pentao, L., Roa, B.B., Patel, P.I., and Lupski, J.R., 1994, Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17, Hum. Mol. Genet. 3:223–228.PubMedCrossRefGoogle Scholar
  60. Chance, RF, Andersom, M.K., Leppig, K.A., Lensch, M.W., Matsunami, N., Smith, B., Swanson, P.D., Odelberg, S., Disteche, C.M., and Bird, T.D., 1993, DNA deletion associated with hereditary neuropathy with liability to pressure palsies, Cell 2:143–151.CrossRefGoogle Scholar
  61. Chase, D.S., Morris, A.H., Ballabio, A., Pepper, S., Giannelli, F., and Adinolfi, M., 1986, Genetics of Hunter syndrome: Carrier detection, new mutations, segregation and linkage analysis, Ann. Hum. Genet. 50:349–360.PubMedCrossRefGoogle Scholar
  62. Chen, Z., Morgan, R., Berger, C.S., and Sandberg, A.A., 1992, Application of fluorescence in situ hybridization in hematological disorders, Cancer Genet. Cytogenet. 63:62–69.PubMedCrossRefGoogle Scholar
  63. Chong, S.S., Kristjansson, K., Cota, J., Handyside, A.H., and Hughes, M.R., 1993, Preimplantation prevention of X-linked disease: Reliable and rapid sex determination of single human cells by restriction analysis of simultaneously amplified ZFX and ZFY sequences, Hum. Mol. Genet. 2:1187–1191.PubMedCrossRefGoogle Scholar
  64. Choo, K.H., Vissel, B., Brown, R., Filby, R.G., and Earle, E., 1988, Homologous alpha satellite sequences on human acrocentric chromosomes with selectivity for chromosomes 13, 14, and 21: Implications for recombination between nonhomologues and Robertsonian translocations, Nucl. Acids Res. 16:1273–1284.PubMedCrossRefGoogle Scholar
  65. Choo, K.H., Vissel, B., and Earle, E., 1989, Evolution of α-satellite DNA on human acrocentric chromosomes, Genomics 5:332–344.PubMedCrossRefGoogle Scholar
  66. Choo, K.H., Vissel, E.E., and Filby, R.G., 1990, Identification of two distinct subfamilies of alpha-satellite DNA that are highly specific for chromosome 15, Genomics 7:143–151.PubMedCrossRefGoogle Scholar
  67. Choo, K.H., Vissel, B., Nagy, A., Earle, E., and Kalitsis, P., 1991, A survey of the genomic distribution of alpha satellite DNA on all the human chromosomes, and derivation of a new consensus sequence, Nucl. Acids Res. 19:1179–1182.PubMedCrossRefGoogle Scholar
  68. Chu, E.H.Y., and Bender, M.A., 1962, Cytogenetics and evolution of primates, Ann. N.Y. Acad. Sci. 102:253–266.PubMedCrossRefGoogle Scholar
  69. Chumakov, I.M., Rigault, P., Guillou, S., Ougen, P., Bilaut, A., Guasconi, G., Gervy, P., Le Gall, I., Soularue, P., Grinas, L., Bougueleret, L., Bellanne-Chantelot, C., Lacroix, B., Barillot, E., Gesnouin, P., Pook, S., Vaysseix, G., Frelat, G., Schmitz, A., Sambucy, J.-L., Bosch, A., Estivill, X., Weissenbach, J., Vignal, A., Reithman, H., Cox, D., Patterson, D., Gardiner, K., Hattori, M., Sakaki, Y., Ichikawa, H., Ohki, M., Le Paslier, D., Heilig, R., Antonarakis, S., and Cohen, D., 1992ö, Continuum of overlapping clones spanning the entire human chromosome 21q, Nature 359:380–387.PubMedCrossRefGoogle Scholar
  70. Chumakov, I.M., Le Gall, I., Billauolt, A., Ougen, P., Soularue, P., Guillou, S., Rigault, P., Bui, H., De Tand, M.-E, Barillot, E., Abderrahim, H., Cherif, P., Berger, R., Le Paslier, D., and Cohen, D, 1992b, Isolation of chromosome 21-specific yeast artificial chromosomes from a total human genome library, Nature Genet. 1:222–225.PubMedCrossRefGoogle Scholar
  71. Cohen, A.J., Li, F.P., Berg, S., Marchetts, D.J., Tsai, S., Jacobs, S.C., and Brown, R.S., 1979, Hereditary renal-cell carcinoma associated with a chromosomal translocation, N. Engl. J. Med. 301:592–595.PubMedCrossRefGoogle Scholar
  72. Colombi, M., Garadella, R., and Barlati, S., 1988, A frequent HaeIII RFLP of the human fibronectin gene (FN1), Nucl. Acids Res. 16:6761.CrossRefGoogle Scholar
  73. Comings, D.E., 1980, Arrangement of chromatin in the nucleus, Hum. Genet. 53:131–143.PubMedCrossRefGoogle Scholar
  74. Cook, H.J., and Hindley, J., 1987, Cloning of human satellite III DNA: Different components are on different chromosomes, Nucl. Acids Res. 6:3177–3197.CrossRefGoogle Scholar
  75. Cooke, H.J., Schmidtke, J., and Gorden, J.R., 1982, Characterization of human Y chromosome repeated sequence and related sequences in higher primates, Chromosoma 87:491–502.PubMedCrossRefGoogle Scholar
  76. Cremer, T., Landegent, J., Brueckner, A., Scholl, H.R, Schardin, M., Hager, H.D., Devilee, P., Pearson, P., and Van der Ploeg, M., 1986, Detection of chromosome aberrations in the human interphase nucleus by visualization of specific target DNAs with radioactive and nonradioactive in situ hybridization techniques: Diagnosis of trisomy 18 with probe L1.84, Hum. Genet. 74:346–352.PubMedCrossRefGoogle Scholar
  77. Cremer, T., Lichter, P., Borden, J., Ward, D.C., and Manuelidis, L., 1988, Detection of chromosome aberrations in metaphase and interphase tumor cells by in situ hybridization using chromosome-specific library probes, Hum. Genet. 80:235–246.PubMedCrossRefGoogle Scholar
  78. Cremer, T., Popp, S., Emmerich, P., Lichter, P., and Cremer, C., 1990, Rapid metaphase and interphase detection of radiation-induced chromosome aberrations in human lymphocytes by chromosomal suppression in situ hybridization, Cytometry 11:110–118.PubMedCrossRefGoogle Scholar
  79. Cremer, T., Remm, B., Kharhoush, I., Jauch, A., Wienberg, J., Stelzer, E., and Cremer, C., 1991, Nonisotopic in situ hybridization and digital image analysis of chromosomes in mitotitc and interphase cells, Rev. Europ. Technol. Biomed. 13:50–54.Google Scholar
  80. Crolla, J.A., Dennis, N.R., and Jacobs, P.A., 1992, A nonisotopic in situ hybridization study of the chromosomal origin of 15 supernumerary marker chromosomes in man, J. Med. Genet. 29:699–703.PubMedCrossRefGoogle Scholar
  81. Crolla, J.A., and Llerena, J.C., 1988, A mosaic 45,X.46,X,r(?) karyotype investigated with X and Y centromere-specific probes using a nonautoradiographic in situ hybridization technique, Hum. Genet. 81:81–84.PubMedCrossRefGoogle Scholar
  82. Crolla, J.A., Smith, M., and Docherty, Z., 1989, Identification and characterization of a small marker chromosome using nonisotopic in situ hybridization with X and Y specific probes, J. Med. Genet. 26:192–194.PubMedCrossRefGoogle Scholar
  83. Crolla, J.A., Harvey, J.F., Sitch, F.L., and Dennis, N.R., 1994, Supernumerary marker 15 chromosomes: A clinical, molecular, and FISH approach to diagnosis and prognosis, Hum. Genet. (in press).Google Scholar
  84. Curran, M.E., Atkinson, D.L., Ewart, A.K., Morris, C.A., Leppert, M.F., and Keating, M.T., 1993, The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis, Cell 73:159–168.PubMedCrossRefGoogle Scholar
  85. Cullen, P., Rodgers, C.S., Callen, D.S., Connolly, V.N., Eyre, H., Fells, P., Gordon, H., Winter, R.M., and Thakker, R.V., 1993, Association of familial Duane anomaly and urogenital abnormalities with a bisatellited marker derived from chromosome 22, Am. J. Med. Genet. 47:925–930.PubMedCrossRefGoogle Scholar
  86. Davies, A.F., Barber, L., Murer-Orlando, M., Bobrow, M., and Adinolfi, M., 1994a, An improved method for the detection of trisomy 21 in uncultured amniocytes by fluorescence in situ hybridization, Ann. N.Y. Acad. Sci. 731:67–72.PubMedCrossRefGoogle Scholar
  87. Davies, A.F., Barber, L., Murer-Orlando, M., Bobrow, M., and Adinolfi, M., 1994b, FISH detection of trisomy 21 in interphase by the simultaneous use of two differentially labeled cosmid contigs, J. Med. Genet. 31:679–685.PubMedCrossRefGoogle Scholar
  88. de Grouchy, J., Truleau, C., Roubin, M., and Klein, M., 1972, Evolution caryotypique de l’homme et du chimpanzé: Étude comparative des topographies de bands aprés dénaturation ménagée, Ann. Genet. 15:79–84.PubMedGoogle Scholar
  89. de la Chapelle, A., Herra, R., Koivisto, M., and Aula, P., 1981, A deletion in chromosome 22 can cause Di George syndrome, Hum. Genet. 57:253–256.PubMedCrossRefGoogle Scholar
  90. De Braekeleer, M., 1987, Variant Philadelphia translocations in chronic myeloid leukemia, Cytogenet. Cell Genet. 44:215–222.PubMedCrossRefGoogle Scholar
  91. Delhanty, J.D.A., Griffin, D.K., Handyside, A.H., Harper, J., Atkinson, G.H.G., Pieters, M.H.E.C., and Winston, R.M.L., 1993, Detection of aneuploidy and chromosomal mosaicism in human embryos during preimplantation sex determination by fluorescent in situ hybridization (FISH), Hum. Mol. Genet. 2:1183–1185.PubMedCrossRefGoogle Scholar
  92. Den Dunnen, J.T., Grootscholten, P.M., Bakker, E., Blonden, L.A.J., Ginjaar, H.B., Wapenaar, M.C., Van Paassen, H.M.B., Van Broeckhoven, C., Pearson, P.L., and Van Ommen, G.J.B., 1989, Topography of the DMD gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications, Am. J. Hum. Genet. 45:835–847.Google Scholar
  93. Deng, H.-X., Yoshiura, K., Dirks, R.W., Harada, N., Hirota, T., Tsukamoto, K., Jinno, Y., and Niikawa, N., 1992, Chromosome-band-specific painting: Chromosome in situ suppression hybridization using PCR products from a microdissected chromosome band as a probe pool, Hum. Genet. 89:13–17.PubMedCrossRefGoogle Scholar
  94. Devilee, P., Slagboom, P., Bakker, E., Scholl, H.P., Hager, H.D., Stevenson, A.F.G., Cornelisse, C.J., and Pearson, PL., 1986, Two subsets of human alphoid repetitive DNA show distinct preferential localization in the pericentric regions of chromosomes 13, 18, and 21, Cytogenet. Cell Genet. 41:193–201.PubMedCrossRefGoogle Scholar
  95. Devilee, P., Thierry, R.F., and Kievits, T., 1988, Detection of chromosome aneuploidy in interphase nuclei from human primary breast tumors using chromosome-specific repetitive DNA probes, Cancer Res. 48:5825–5830.PubMedGoogle Scholar
  96. DiGeorge, A.M., Olmsted, D.W., and Harley, R.D., 1960, Waardenburg’s syndrome, J. Paediatr. 57:649.CrossRefGoogle Scholar
  97. Dittrich, B., Robinson, W.P., Knoblauch, H., Buiting, K., Gillessenkaesbach, G., and Horsthemke, B., 1992, Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11–13, Hum. Genet. 90:313–315.PubMedCrossRefGoogle Scholar
  98. Dobyns, W.B., Curry, C.Y.R., Hoyme, H.E., Turlington, L., and Ledbetter, D.H., 1991, Clinical and molecular diagnosis of Miller-Dieker syndrome, Am. J. Hum. Genet. 48:584–594.PubMedGoogle Scholar
  99. Dohner, H., Pohl, S., Bulgay-Morschel, M., Stilgenbauer, S., Bentz, M., and Lichter, P., 1993, Trisomy 12 in chronic lymphoid leukemias—a metaphase and interphase cytogenetic analysis, Leukemia 7:516–520.PubMedGoogle Scholar
  100. Driscoll, D.A., Budarf, M.L., and Emanuel, B.S., 1992, A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11, Am. J. Hum. Genet. 50:924–933.PubMedGoogle Scholar
  101. Duane, A., 1905, Congenital deficiency of abduction associated with impairment of adduction, retraction movements, contractions of the palpebral fissure, and oblique movement of the eye, Arch. Ophthal. 34:133–159.Google Scholar
  102. Dutrillaux, B., 1979, Chromosomal evolution in primates: Tentative phylogy from Microcebus murinus (prosimian) to man, Hum. Genet. 48:251–314.PubMedCrossRefGoogle Scholar
  103. Dutrillaux, B., and Couturier, J., 1981, The ancestral karyotype of Platyrrhine monkeys, Cytogenet. Cell Genet. 30:232–242.PubMedCrossRefGoogle Scholar
  104. Dyck, P.J., 1993, Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomic neurons, in: Peripheral Neuropathies, 3rd edition (PJ. Dyck and PK. Thomas, eds.), pp. 1065–1092, WB Saunders, Philadelphia.Google Scholar
  105. Dyck, P.J., and Lambert, E.H., 1968a, Lower motor primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies, Arch. Neurol. 18:603–618.PubMedCrossRefGoogle Scholar
  106. Dyck, P.J., and Lambert, E.H., 1968b, Lower motor and primary sensory neuron disease with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations, Arch. Neurol. 18:619–625.PubMedCrossRefGoogle Scholar
  107. Egozcue, J., Perkins, E.M., and Hagemanas, F., 1968, Chromosomal evolution in marmosets, tamarins, and finches, Folia Primatologica 9:81–94.CrossRefGoogle Scholar
  108. Elias, G., Price, J., Dockter, M., Wachtel, S., Tharapel, A., and Simpson, J.L., 1992, First trimester prenatal diagnosis of trisomy 21 in fetal cells from maternal blood, Lancet 340:1033.PubMedCrossRefGoogle Scholar
  109. Emi, M., Takahashi, E., Koyama, K., Okui, K., Oshimura, M., and Nakamura, Y., 1992, Isolation and mapping of 88 new RFLP markers of human chromosome 8, Genomics 13:1261–1266.PubMedCrossRefGoogle Scholar
  110. Emmerich, P., Loos, P., Jauch, A., Hopman, A.H.N., Wiegant, J., Higgins, M., White, B.N., Ploeg, M., Cremer, C., and Cremer, T., 1989, Double in situ hybridization in combination with digitized image analysis: A new approach to study interphase chromosome topography, Exp. Cell Res. 181:126–140.PubMedCrossRefGoogle Scholar
  111. Epstein, D.J., Malo, D., Vekemans, M., and Gros, P., 1991, Molecular characterization of a deletion encompassing Splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3, Cell 67:767–774.PubMedCrossRefGoogle Scholar
  112. Ewart, A.K., Morris, C.A., Atkinson, D., Jin, WS., Sternes, K., Spallone, P., Stock, A.D., Leppert, M., and Keating, M.T., 1993a, Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome, Nature Genet. 5:11–16.PubMedCrossRefGoogle Scholar
  113. Ewart, A.K., Morris, C.A., Ensing, G.J., Loking, J., Moore, C., Leppert, M., and Keating, M.T., 1993b, A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7, Proc. Natl. Acad. Sci. USA 90:3226–3230.PubMedCrossRefGoogle Scholar
  114. Fantes, J.A., Bickmore, W.A., Fletcher, J.M., Ballesta, F., Hanson, I.M., and Van Heyningen, V., 1992, Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization, Am. J. Hum. Genet. 51:1286–1294.PubMedGoogle Scholar
  115. Fidlerova, H., Senger, G., Kost, M., Sanseau, P., and Sheer, D., 1994, Two simple procedures for releasing chromatin from routinely fixed cells for fluorescence in situ hybridization, Cytogenet. Cell Genet. 65:203–205.PubMedCrossRefGoogle Scholar
  116. Flomen, R.H., Green, P.M., Bentley, D.R., Giannelli, F., and Green, E.P., 1992, Detection of point mutations and a gross deletion in six Hunter syndrome patients, Genomics 13:543–550.PubMedCrossRefGoogle Scholar
  117. Foy, C., Newton, V.E., Wellesley, D., Harris, R., and Read, A.R, 1990, Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the splotch mouse, Am. J. Hum. Genet. 46:1017–1023.PubMedGoogle Scholar
  118. Friedrich, U., and Jensen, P.K.A., 1983, Limited use of chromosomal markers in prenatal diagnosis, Prenat. Diagn. 3:355–356.PubMedCrossRefGoogle Scholar
  119. Gall, J.G., and Pardue, M.L., 1969, Formation and detection of RNA-DNA hybrid molecules in cytological preparations, Proc. Natl. Acad. Sci. USA 63:378–381.PubMedCrossRefGoogle Scholar
  120. Gandelman, K.Y., Gibson, L., Meyn, M.S., and Yangfeng, T.L., 1992, Molecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndrome, Am. J. Hum. Genet. 51:571–578.PubMedGoogle Scholar
  121. Gerber, M.J., Drabkin, H.A., Firnhaber, C., Miller, Y.E., Scoggin, C.H., and Smith, D.I., 1988, Regional localization of chromosome 3-specific DNA fragments using a hybrid cell deletion panel, Am. J. Hum. Genet. 85:576–580.Google Scholar
  122. Gerhard, D.S., Lawrence, E., Wu, J., Chua, H., Ma, N., Bland, S., and Jones, C., 1992, Isolation of 1001 new markers from human chromosome 11, excluding the region of 11p13–p15.5, and their sublocalization by a new series of radiation-reduced somatic cell hybrids, Genomics 13:1133–1142.PubMedCrossRefGoogle Scholar
  123. Gingrich, J.C., Shadravan, F., and Lowry, S.R., 1993, A fluorescence in situ hybridization map of human chromosome 21 consisting of thirty genetic and physical markers on the chromosome: Localization of 137 additional YAC and cosmid clones with respect to this map, Genomics 17:98–105.PubMedCrossRefGoogle Scholar
  124. Giovannini, M., Selleri, L., Biegel, J.A., Scotland, K., Emanuel, B.S., and Evans, G.A., 1992, Interphase cytogenetics for the detection of the t(11;22) (q24; q12) in small round cell tumors, J. Clin. Invest. 90:1911–1918.PubMedCrossRefGoogle Scholar
  125. Giweraman, A., Hopman, A.H.L., Ramaekers, F.C.S., and Skakkeback, N.E., 1989, Detection of malignant cells in seminal fluid by means of in situ hybridization, Am. J. Path. 136:497–504.Google Scholar
  126. Goodfellow, P.N., and Lovell-Badge, R., 1993, SRY and sex determination in mammals, Ann. Rev. Genet. 27:71–92.PubMedCrossRefGoogle Scholar
  127. Gosden, J., Hanratty, D., Starling, J., Fanter, J., Mitchell, A., and Porteous, D., 1991, Oligonucleotide-primed in situ DNA synthesis (PRINS): A method for chromosome mapping, banding, and investigation of sequence organization, Cytogenet. Cell Genet. 57:100–104.PubMedCrossRefGoogle Scholar
  128. Gould, C.R, Waters, J.J., Mercer, A.M., Challinor, P.R., Hill, S.M., Johnson, R.A., Simpson, RJ., Delhanty, J., and Hulten, M. A., 1992, Limitations of whole chromosome FISH analysis in clinical cytogenetics: Failure of detection of translocated proterminal segments shorter than 2.5Mb, Eur. Soc. Hum. Genet. Denmark 78 (abstract).Google Scholar
  129. Goulding, M.D., Chalepakis, G., Deutsch, U., Erselius, J., and Gruss, P., 1991, Pax-3, a novel murine DNA-binding protein expressed during early neurogenesis, EMBO J. 10:1135–1147.PubMedGoogle Scholar
  130. Greenberg, F., Elder, F.F.B., Haffner, P., Northrup, H., and Ledbetter, D., 1988, Cytogenetic findings in a prospective series of patients with DiGeorge anomaly, Hum. Genet. 43:605–611.Google Scholar
  131. Grierson, H.L., and Purtilo, D.T., 1987, Epstein-Barr virus infections in males with the X-linked lymphoproliferative syndrome, Ann. Intern. Med. 106:538–545.PubMedCrossRefGoogle Scholar
  132. Griffin, D.K., Handyside, A.H., Penkth, R.J.A., Winston, R.M.L., and Delhanty, J.D.A., 1991, Fluorescent in situ hybridization to interphase nuclei of human preimplantation embryos with X and Y chromosome-specific probes, Hum. Reprod. 6:101–105.PubMedGoogle Scholar
  133. Griffin, D.K., Wilton, L.J., Handyside, A.H., Winston, R.M.L., and Delhanty, J.D.A., 1992, Dual fluorescent in situ hybridization for simultaneous detection of X and Y chromosome-specific probes for the sexing of human preimplantation embryonic nuclei, Hum. Genet. 89:18–22.PubMedCrossRefGoogle Scholar
  134. Griffith-Jones, M.D., Miller, D., Lilford, R.J., and Scott, J., 1992, Detection of fetal DNA in transcervical swabs from first trimester pregnancies by gene amplification: A new route to prenatal diagnosis? Br. J. Obstet. Gynaecol. 99:508–511.PubMedCrossRefGoogle Scholar
  135. Grifo, J.A., 1992, Preconception and preimplantation genetic diagnosis: Polar body, blastomere and trophectoderm biopsy, in: Micromanipulation of Human Gametes and Embryos (J. Cohen, H.E. Malter, B.E. Talansky, and J. Grifo, eds.), pp. 223–249, Raven Press, New York.Google Scholar
  136. Groffen, J., Stephenson, J.R., Heisterkamp, N., de Klein, A., Bartram, C.R., and Grosveld, G., 1984, Philadelphia chromosomal breakpoints are clustered within a limited region, ber, on chromosome 22, Cell 36:93–99.PubMedCrossRefGoogle Scholar
  137. Guan, X.-Y., Trent, J.M., and Meltzer, P.S., 1993, Generation of band-specific painting probes from a single microdissected chromosome, Hum. Mol. Genet. 2:1117–1121.PubMedCrossRefGoogle Scholar
  138. Guttenbach, M., and Schmid, M., 1990, Determination of Y chromosome aneuploidy in human sperm nuclei by nonradioactive in situ hybridization, Am. J. Hum. Genet. 46:553–558.PubMedGoogle Scholar
  139. Haaf, T., Steinlein, C., and Schmid, M., 1990, Nucleolar transcriptional activity in mouse Sertoli cells is dependent on centromere arrangement, Exp. Cell Res. 191:157–160.PubMedCrossRefGoogle Scholar
  140. Haaf, T., and Ward, D.C., 1994, High resolution ordering of YAC contigs using extended chromatin and chromosomes, Hum. Mol. Genet. 3:629–633.PubMedCrossRefGoogle Scholar
  141. Haas, M., Aburatani, H., Stanton, V.P., Jr., Bhat, M., Housman, D., and Ward, D.C., 1993, Isolation and FISH mapping of 80 cosmid clones on the short arm of human chromosome 3, Genomics 16:90–96.PubMedCrossRefGoogle Scholar
  142. Halford, S., Lindsay, E., Nayudu, M., Carey, A.H., Baldini, A., and Scambler, P.J., 1993, Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11, Hum. Mol. Genet. 2:191–196.PubMedCrossRefGoogle Scholar
  143. Han, T.H., Ford, J.H., Flaherty, S.P., Webb, G.C., and Matthews, C.D., 1994, A fluorescent in situ hybridization analysis of the chromosome constitution of ejaculated sperm in a 46,XYY male, Clin. Genet. 45:67–70.PubMedCrossRefGoogle Scholar
  144. Handyside, A.H., Kontogianni, E.H., Hardy, K., and Winston, R.M.L., 1990, Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification, Nature 344:768–770.PubMedCrossRefGoogle Scholar
  145. Handyside, A.H., Pattison, J.K., Penketh, R.J.A., Delhanty, J.D.A., Winston, R.M.L., and Tuddenham, E.G.D., 1989, Biopsy of human preimplantation embryos and sexing by DNA amplification, Lancet ii:347–349.CrossRefGoogle Scholar
  146. Hecht, F., and Hecht, B.K., 1987, Aneuploidy in humans: Dimensions, demography, and dangers of abnormal numbers of chromosomes, in: Aneuploidy (Part A: Incidence and Etiology) (B.K. Vig, and A.A. Sandberg, eds.), pp. 9–49, Alan R. Liss, New York.Google Scholar
  147. Heim, S., Billstrom, R., Kristoffersson, U., Maudahl, N., Strombeck, B., and Mitelman, F., 1985, Variant Ph1 translocations in chronic myeloid leukemia, Cancer Genet. Cytogenet. 18:215–227.PubMedCrossRefGoogle Scholar
  148. Heim, S., Mitelman, F., 1987, Cancer Cytogenetics, Alan R. Liss, New York, VIII, 309.Google Scholar
  149. Heng, H.H.Q., Squire, J., and Tsui, L.-C., 1992, High resolution mapping of mammalian genes by in situ hybridization to free chromatin, Proc. Natl. Acad. Sci. USA 89:9509–9513.PubMedCrossRefGoogle Scholar
  150. Hennig, W, 1985, Y chromosome function and spermatogenesis in Drosophila hydei, Adv. Genet. 23:179–234.CrossRefGoogle Scholar
  151. Heppell-Parton, A.C., Albertson, D.G., Fishpool, R., and Rabbitts, P.H., 1994, Multicolour fluorescence in situ hybridization to order small, single-copy probes on metaphase chromosomes, Cytogenet. Cell Genet. 66:42–47.PubMedCrossRefGoogle Scholar
  152. Herrington, C.S., and McGee, J.O’D., 1990, Interphase cytogenetics, Neurochem. Res. 15:467–474.PubMedCrossRefGoogle Scholar
  153. Higgins, M.J., Wang, H., Shthromas, L, Haliotis, T., Roder, J.C., Holden, J.J.A., and White, B.N., 1985, Organization of a repetitive human 1.8 kb KpnI sequence localized in the heterochromatin of chromosome 15, Chromosoma 93:77–86.PubMedCrossRefGoogle Scholar
  154. Hill, R.E., Ravor, J., Hogan, B.L., Ton, C.C., Saunders, G.F, Hanson, I.M., Prosser, J., Jordan, T, Hastie, N.D., and van Heyningen, V., 1991, Mouse small eye results from mutations in a paired-like homeobox-containing gene [published erratum appears in Nature, 1992, 355:750], Nature 354:522–525.PubMedCrossRefGoogle Scholar
  155. Hilliker, A.J., and Appels, R., 1989, The arrangement of interphase chromosomes: Structural and functional aspects, Exp. Cell Res. 185:297–318.CrossRefGoogle Scholar
  156. Hoffman, E.P., Brown, R.H., and Kunkel, L.M., 1987, Dystrophin: The protein product of the Duchenne muscular dystrophy locus, Cell 51:919–928.PubMedCrossRefGoogle Scholar
  157. Hopman, A.H.N., Ramaekers, F.C.S., Raap, A.K., Beck, J.L.M., Devilee, P., van der Ploeg, M., and Vooijs, G.P., 1988, In situ hybridization as a tool to study numerical chromosome aberrations in solid bladder tumors, Histochem. 89:307–316.CrossRefGoogle Scholar
  158. Hopman, A.H.N., Ramaekers, ECS., and Vooijs, G.R, 1990, Interphase cytogenetics of solid tumors, in: In situ Hybridization. Principles and Practice (J.M. Polak and J.O’D. McGee, eds.), pp. 165–186, Oxford University Press, Oxford.Google Scholar
  159. Hopman, A.H.N., Wiegant, J., Tesser, G.I., and Van Duijn, P., 1986a, A nonradioactive in situ hybridization method based on mercurated nucleic acid probes and sulfhydryl-hapten ligands, Nucl. Acids Res. 14:6471–6488.PubMedCrossRefGoogle Scholar
  160. Hopman, A.H.N., Wiegant, J., and Van Duijn, P., 1986b, Mercurated probes, a new principle for nonradioactive in situ hybridization, Exp. Cell Res. 169:357–368.CrossRefGoogle Scholar
  161. Hopman, A.H.N., Wiegant, J., and van Duijn, P., 1986c, A new hybridocytochemical method based on mercurated nucleic acid probes and sulphydryl-hapten ligands. II: Effects of variations in ligand structure on the in situ detection of mercurated probes, Histochem. 84:179–185.CrossRefGoogle Scholar
  162. Hozier, J., Graham, R., Westfall, T., Sievert, P., and Davis, L., 1994, Preparative in situ hybridization: Selection of chromosome region-specific libraries on mitotic chromosomes, Genomics 19:441–447.PubMedCrossRefGoogle Scholar
  163. Hsu, L.Y.F., 1986, Prenatal diagnosis of chromosome abnormalities, in: Genetic Disorders and the Fetus, (A. Milunsky, ed.), pp. 115–183, Plenum Press, New York.CrossRefGoogle Scholar
  164. Hubert, J., and Bourgeois, C.A., 1986, The nuclear skeleton and the spatial arrangement of chromosomes in the interphase nucleus of vertebrate somatic cells, Hum. Genet. 74:1–15.PubMedCrossRefGoogle Scholar
  165. Hulten, M.A., Gould, C.P., Goldman, A.S.H., and Waters, J.J., 1991, Chromosome in situ suppression hybridization in clinical cytogenetics, J. Med. Genet. 28:577–582.PubMedCrossRefGoogle Scholar
  166. Imaizumi, K., and Kuroki, Y., 1991, Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16) (p13.3; p13.3), Am. J. Med. Genet. 38:636.PubMedCrossRefGoogle Scholar
  167. Imaizumi, K., Kurosawa, K., Masuno, M., Tsukuhara, M., and Kuroki, Y., 1993, Chromosome aberrations in Rubinstein-Taybi syndrome, Clin. Genet. 43:215–216.PubMedCrossRefGoogle Scholar
  168. Inazawa, J., Ariyama, T., Tokino, T., Tanigami, A., Nakamura, Y., and Abe, T., 1994, High resolution ordering of DNA markers by multicolor fluorescent in situ hybridization of prophase chromosomes, Cytogenet. Cell Genet. 65:130–135.PubMedCrossRefGoogle Scholar
  169. Inazawa, J., Saito, H., Ariyama, T., Abe, T., and Nakamura, Y., 1993, High-resolution cytogenetic mapping of 342 new cosmid markers including 43 RFLP markers on human chromosome 17 by fluorescence in situ hybridization, Genomics 17:153–162.PubMedCrossRefGoogle Scholar
  170. Ishikiriyama, S., Tonoki, H., Shibuya, Y., Chin, S., Harada, N., Abe, K., and Niikawa, N., 1989, Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3), Am. J. Med. Genet. 33:505–507.PubMedCrossRefGoogle Scholar
  171. Jacobs, P.A., Buckton, K.E., Cunningham, C., and Newton, M., 1974, An analysis of the break points of structural rearrangements in man, J. Med. Genet. 11:50–64.PubMedCrossRefGoogle Scholar
  172. Jacobs, P.A., Betts, P.R., Cockwell, A.E., Crolla, J.A., MacKenzie, M.J., Robinson, D.O., and Youngs, S.A., 1990, A cytogenetic and molecular reappraisal of a series of patients with Turner’s syndrome, Ann. Hum. Genet. 54:209–223.PubMedCrossRefGoogle Scholar
  173. Jauch, A., Wienberg, J., Stanyon, R., Arnold, N., Tofanelli, S., Ishida, T., and Cremer, T., 1992, Reconstruction of genomic rearrangements in great apes and gibbons by chromosome painting, Proc. Natl. Acad. Sci. USA 89:8611–8615.PubMedCrossRefGoogle Scholar
  174. John, H.L., Birnstiel, M.L., and Jones, K.W., 1969, RNA-DNA hybrids at the cytological level, Nature 223:912–913.CrossRefGoogle Scholar
  175. Johnson, D.H., Kroisel, P.M., Klapper, H.J., and Rosenkranz, W., 1992, Microdissection of a human marker chromosome reveals its origin and a new family of centromeric repetitive DNA, Hum. Mol. Genet. 1:141–141.PubMedGoogle Scholar
  176. Joos, S., Scherthan, H., Speicher, M.R., Schlegel, J., Cremer, T., and Lichter, P., 1993, Detection of amplified DNA sequences by reverse chromosome painting using genomic tumor DNA as probe, Hum. Genet. 90:584–589.PubMedCrossRefGoogle Scholar
  177. Jorgensen, A.L., Jones, C., Bostock, C.J., and Bak, A.L., 1987, Different subfamilies of alphoid repetitive DNA are present on the human and chimpanzee homologous chromosomes 21 and 22, EMBO J. 6:1691–1696.PubMedGoogle Scholar
  178. Julien, C., Bazin, A., Guyot, B., Forestier, F., and Daffos, F., 1986, Rapid prenatal diagnosis of Down’s syndrome with in situ hybridization of fluorescent DNA probes, Lancet ii:863–864;.CrossRefGoogle Scholar
  179. Kadam, I., Umerani, A., Srivastava, A., Masterson, M., Lamptkin, B., and Raza, A., 1993, Combination of chemical and interphase cytogenetics to investigate the biology of meloid disorders: Detection of marked monosomy 7 in AML, Leukemia Res. 17:365–374.CrossRefGoogle Scholar
  180. Kao, F-T., 1987, Chromosome microdissection and microcloning in human molecular genetics, Somat. Cell Mol. Genet. 13:374–380.Google Scholar
  181. Kao, F-T., and Yu, J.-W., 1991, Chromosome microdissection and cloning in human genome and genetic disease analysis, Proc. Natl. Acad. Sci. USA 88:1844–1848.PubMedCrossRefGoogle Scholar
  182. Khalfan, H., Abuknesha, R., Rand-Weaver, M., Price, R.G., and Robinson, D., 1986, Aminomethyl coumarin acetic acid: A new fluorescent labeling agent for proteins, Histochem. J. 18:497–499.PubMedCrossRefGoogle Scholar
  183. Kievits, T., Dauwerse, J.G., Wiegant, J., Devilee, P., Breuning, M.H., Cornelisse, C.J., van Ommen, G.J.B., and Pearson, PL., 1990, Rapid subchromosomal localization of cosmids by nonradioactive in situ hybridization, Cytogenet. Cell Genet. 53:134–136.PubMedCrossRefGoogle Scholar
  184. Kirkpatrick, S.J., Kent, C.M., Laxova, R., and Sekhon, G.S., 1992, Waardenburg syndrome type 1 in a child with deletion (2) (q35q36.2), Am. J. Med. Genet. 44:699–700.PubMedCrossRefGoogle Scholar
  185. Klinger, K., Landes, G., Shook, D., Harvey, R., Lopez, L., Locke, P., Lerner, T., Osathanondh, R., Leverone, B., Houseal, T., Pavelka, K., and Dackowski, W., 1992, Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH), Am. J. Hum. Genet. 51:55–65.PubMedGoogle Scholar
  186. Koch, J., Hindkjaer, J., Mogensen, J., Kolvraa, S., and Bolund, L., 1991, An improved method for chromosome-labeling of a satellite DNA in situ by using denatured double-stranded DNA probes as primers in a primed in situ labeling (PRINS) procedure, GATA 8:171–178.Google Scholar
  187. Koch, J., Hobolt, N., Petersen, G.B., Willard, H.F, Waye, J.S., Gregersen, N., and Bolund, L., 1990, A case of 46,XX,r(X)(p1q1) diagnosed by in situ hybridization, Clin. Genet. 37:216–220.PubMedCrossRefGoogle Scholar
  188. Koch, J.E., Kolvraa, S., Petersen, K.B., Gregersen, N., and Bolund, L., 1989, Oligonucleotide- priming methods for the chromosome-specific labeling of alpha-satellite DNA in situ, Chromosoma 98:259–265.CrossRefGoogle Scholar
  189. Koch, J., Mogensen, J., Pedersen, S., Fisher, H., Hindkjaer, J., Kolvraa, S., Bolund, L., 1992, Fast one-step procedure for the detection of nucleic acids in situ by primer-induced sequence-specific labeling with fluorescein-12-dUTP, Cytogenet. Cell Genet. 60:1–3.PubMedCrossRefGoogle Scholar
  190. Koenig, M., Beggs, A.H., Moyer, M., Scherpf, S., Heindrich, K., Bettecken, T., Meng, G., Muller, C.R., Lindlof, M., Kaariainen, H., de la Chapelle, A., Kiuru, A., Savontaus, M.-L., Gilgenkrantz, H., Recan, D., Chelly, J., Kaplan, J.-C., Covone, A.E., Archidiacono, N., Romeo, G., Lichti-Gallati, S., Schneider, V., Braga, S., Moser, H., Darras, B.T., Murphy, P., Francke, U., Chen, J.D., Morgan, G., Denton, M., Greenberg, CR., Wrogemann, K., Blonden, L.A.J., van Paassen, H.M.B., van Ommen, G.J.B., and Kunkel, L.M., 1989, The molecular basis for Duchenne versus Beckler muscular dystrophy: Correlation of severity with type of deletion, Am. J. Hum. Genet. 45:498–506.PubMedGoogle Scholar
  191. Koopman, P., Gubbay, J., Vivian, N., Goodfellow, P., and Lovell-Badge, R., 1991, Male development of chromosomally female mice transgenic for Sry, Nature 351:117–121.CrossRefGoogle Scholar
  192. Koopman, P., Münsterberg, A., Capel, B., Vivian, N., and Lovell-Badge, R., 1990, Expression of a candidate sex-determining gene during mouse testis differentiation, Nature 348:450–452.PubMedCrossRefGoogle Scholar
  193. Kozma, R., and Adinolfi, M., 1987, In situ hybridization and the detection of biotinylated DNA probes, Mol. Biol. Med. 4:357–364.PubMedGoogle Scholar
  194. Kozma, R., and Adinolfi, M., 1988, In situ fluorescence hybridization of Y translocations: Cytogenetic analysis using probes Y190 and Y431, Clin. Genet. 33:156–161.PubMedCrossRefGoogle Scholar
  195. Kozma, R., Fear, C., and Adinolfi, M., 1988, Fluorescence in situ hybridization and Y ring chromosomes, Hum. Genet. 80:95–96.PubMedCrossRefGoogle Scholar
  196. Kuo, W.-L., Tenjin, H., Segreves, R., Pinkel, D., Golbus, M.S., and Gray, J., 1991, Detection of aneuploidy involving chromosomes 13, 18 or 21 by fluorescence in situ hybridization (FISH) to interphase and metaphase amniocytes, Am. J. Hum. Genet. 49:112–119.PubMedGoogle Scholar
  197. Kushnick, T., Irons, T.G., Wiley, J.E., Gettig, E.A., Rao, K.W., and Bowyer, S., 1987, 45X/46,r(X) with syndactyly and severe mental retardation, Am. J. Med. Genet. 28:567–574.PubMedCrossRefGoogle Scholar
  198. Kuwano, A., Ledbetter, S.A., Dobyns, W.B., Emanuel, B.S., and Ledbetter, D.H., 1991, Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization, Am. J. Hum. Genet. 49:707–714.PubMedGoogle Scholar
  199. Kuwano, A., Mutirangura, A., Dittrich, B., Buiting, K., Horsthemke, B., Saitoh, S., Niikawa, N., Ledbetter, S.A., Greenberg, F., Chinault, A.C., and Ledbetter, D.H., 1992, Molecular dissection of the Prader-Willi/Angelman syndrome region (15q-ll) by YAC cloning and FISH analysis, Hum. Mol. Genet. 6:417–425.CrossRefGoogle Scholar
  200. Lacombe, D., Saura, R., Taine, L., and Battin, J., 1992, Confirmation of assignment of a locus for Rubenstein-Taybi syndrome to 16pl3.3, Am. J. Med. Genet. 44:126–128.PubMedCrossRefGoogle Scholar
  201. Landegent, J.E., Jansen de Wal, N., Baan, R.A., Hoeijmakers, J.H.J., and Van der Ploeg, M., 1984, 2-acetylaminofluorene-modified probes for the indirect hybridochemical detection of specific nucleic acid sequences, Exp. Cell Res. 153:61–72.PubMedCrossRefGoogle Scholar
  202. Landegent, J.E., Jansenin de Wal, N., Dirks, R.W., Baas, F., and Van der Ploeg, M., 1987, Use of whole cosmid cloned genomic sequences for chromosomal localization by nonradioactive in situ hybridization, Hum. Genet. 77:366–370.PubMedCrossRefGoogle Scholar
  203. Langer, P.R., Waldrop, A.A., and Ward, D.C., 1981, Enzymatic synthesis of biotin-labeled poly- nucleotides: Novel nucleic acid affinity probes, Proc. Natl. Acad. Sci. USA 78:6633–6637.PubMedCrossRefGoogle Scholar
  204. Lawrence, J.B., 1990, A fluorescence in situ hybridization approach for gene mapping and the study of nuclear organization, in: Genome Analysis Volume 1: Genetic and Physical Mapping (K.E. Davies and S.M. Tilghman, eds.), pp. 1–38, Cold Spring Harbor Laboratory Press, Cold Spring Harbor, New York.Google Scholar
  205. Lawrence, J.B., Singer, R.H., and McNeil, J.A., 1990, Interphase and metaphase resolution of different distances within the human dystrophin gene, Science 249:928–932.PubMedCrossRefGoogle Scholar
  206. Leana-Cox, J., Levin, S., Surana, R., Wulfsberg, E., Kenne, C.L., Raffel, L.J., Sullivan, B., and Schwartz, S., 1993, Characterization of de novo duplications in eight patients by using fluorescence in situ hybridization with chromosome-specific DNA libraries, Am. J. Hum. Genet. 52:1067–1073.PubMedGoogle Scholar
  207. Lebo, R.V., Lynch, E.D., Bird, T.D., Golbus, M.S., Barker, D.F, O’Connell, P., and Chance, P.F., 1992, Multicolor in situ hybridization and linkage analysis order Charcot-Marie-Tooth Type I (CMT1A) gene-region markers, Am. J. Hum. Genet. 50:42–55.PubMedGoogle Scholar
  208. Lebo, R.V., Lynch, E.D., Wiegant, J., Moore, K., Trousine, M., and van der Ploeg, M., 1991, Multicolor fluorescence in situ hybridization and pulsed-field electrophoresis dissect CMT1B gene region, Hum. Genet. 88:13–20.PubMedCrossRefGoogle Scholar
  209. Ledbetter, D.H., 1992, The “colorizing” of cytogenetics: Is it ready for prime time? Hum. Mol. Genet. 1:297–299.PubMedCrossRefGoogle Scholar
  210. Ledbetter, S.A., Wallace, M.R., Collins, ES., and Ledbetter, D.H., 1990, Human chromosome 17 NotI linking clones and their use in long-range restriction mapping of the Miller-Dieker chromosome region (MDCR) in 17pl3.3, Genomics 7:264–269.PubMedCrossRefGoogle Scholar
  211. Leitch, A.R., Schwarzacher, T., Jackson, D., and Leitch, I.J., 1994, In situ hybridization: A practical guide. Royal Microscopical Society Microscopy HandbookNo. 27, Bios Scientific Publishers Ltd., Oxford, England.Google Scholar
  212. Lengauer, C., Speicher, M.R., Popp, S., Jauch, A., Taniwaki, M., Nagaraja, R., Riethman, H.C., Donis-Keller, H., D’Urso, M., Schlessinger, D., and Cremer, T., 1993, Chromosomal bar codes produced by multicolor fluorescence in situ hybridization with multiple YAC clones and whole chromosome painting probes, Hum. Mol. Genet. 2:505–512.PubMedCrossRefGoogle Scholar
  213. Lewis, J.P., Tanke, H.J., Raap, A.K., Beverstock, G.C., and Kluin-Nelemans, H.C., 1993, Somatic pairing of centromeres and short arms of chromosome 15 in the hematopoietic and lymphoid system, Hum. Genet. 92:577–582.PubMedCrossRefGoogle Scholar
  214. Lichter, L., Chang Tang, C.-J., Call, K., Lewis, K., Evans, G.A., Housman, D., and Ward, D.C., 1990, High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones, Science 247:64–69.PubMedCrossRefGoogle Scholar
  215. Lichter, P., Cremer, T., Borden, J., Manuelidis, L., and Ward, D.C., 1988, Delineation of individual chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries, Hum. Genet. 80:224–234.PubMedCrossRefGoogle Scholar
  216. Lichter, D., and Ward, D.C., 1990, Is nonisotopic in situ hybridization finally coming of age? Nature 342:93–94.CrossRefGoogle Scholar
  217. Lindsay, E.A., Halford, S., Wadey, R., Scambler, P.J., and Baldini, A., 1993, Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization, Genomics 17:403–407.PubMedCrossRefGoogle Scholar
  218. Lomax, B.L., Kalousek, D.K., Kuchinka, B.D., Barrett, I.J., Harrison, K.J., and Safavi, H., 1994, The utilization of interphasae cytogenetic analysis for the detection of mosaicism, Hum. Genet. 93:243–247.PubMedCrossRefGoogle Scholar
  219. Looijenga, L.H.J., Smit, V.T.H.B.M., Wessels, J.W., Mollevanger, P., Oosterhuis, J.W., Cornelisse, C.J., and Devilee, P., 1990, Localization and polymorphism of a chromosome 12-specific a satellite DNA sequence, Cytogenet. Cell Genet. 53:216–218.PubMedCrossRefGoogle Scholar
  220. Love, D.R., and Davies, K.E., 1989, Duchenne muscular dystrophy: The gene and the protein, Mol. Biol. Med. 6:7–17.PubMedGoogle Scholar
  221. Lovelace, R.E., and Shapiro, H.K. (eds.), 1990, Charcot-Marie-Tooth disorders: Pathophysiology, molecular genetics, and therapy, Wiley-Liss, New York.Google Scholar
  222. Lüdecke H.-J., Senger, G., Claussen, U., and Horsthemke, B., 1989, Cloning of defined regions of the human genome by microdissection of banded chromosomes and enzymatic amplification, Nature 338:348–350.PubMedCrossRefGoogle Scholar
  223. Lu-Kuo, J., Ward, D.C., and Spritz, R.A., 1993, Fluorescence in situ hybridization mapping of 25 markers on distal human chromosome 2q surrounding the human Waardenburg Syndrome, Type 1 (WS1) locus (PAX3 gene), Genomics 16:173–179.PubMedCrossRefGoogle Scholar
  224. Maccarone, P., Watson, J.M., Francis, D., Selwood, L., Kola, I., and Marshall Graves, J.A., 1992, The evolution of human chromosome 21: Evidence from in situ hybridization in marsupials and a monotreme, Genomics 13:1119–1124.PubMedCrossRefGoogle Scholar
  225. Manning, J.E., Hershey, N.D., Brooker, T.R., Pellegrini, M., Mitchell, H.K., and Davidson, N., 1975, A new method of in situ hybridization, Chromosoma 53:107–117.PubMedCrossRefGoogle Scholar
  226. Manuelidis, L., 1985, Individual interphase chromosome domains revealed by in situ hybridization, Hum. Genet. 71:288–293.PubMedCrossRefGoogle Scholar
  227. Manuelidis, L., 1990, A view of interphase chromosomes, Science 250:1533–1540.PubMedCrossRefGoogle Scholar
  228. Manuelidis, L., and Wu, J.C., 1978, Homology between human and simian repeated DNA, Nature 276:92–94.PubMedCrossRefGoogle Scholar
  229. Mao, Y., and Cremer, M., 1989, Detection of Duchenne muscular dystrophy carriers by dosage analysis using the DMD cDNA clone 8, Hum. Genet. 81:193–195.PubMedCrossRefGoogle Scholar
  230. Maraschio, P., Cuoco, C., Gimelli, G., Zuffardi, O., and Tiepolo, L., 1988, Origin and clinical significance of inv dup(15), in: The Cytogenetics of Mammalian Autosomal Rearrangements (H. Daniel, ed.), pp. 615–634, Alan R. Liss Inc., New York.Google Scholar
  231. Markkanen, A., Heinonen, K., and Knuutila, S., 1982, Methotrexate-induced increase in gap formation in human chromosome band 3pl4, Hereditas 96:317–319.PubMedCrossRefGoogle Scholar
  232. Martin, R.H., Balkan, W., Burns, K., Rademaker, A.W., Lin, C.C., and Rudd, N.L., 1983, The chromosome constitution of 1000 human spermatozoa, Hum. Genet. 63:305–309.PubMedCrossRefGoogle Scholar
  233. Martin, R.H., Lin, C.C., Balkan, W., and Burns, K., 1982, Direct chromosomal analysis of human spermatozoa: Preliminary results from 18 normal men, Am. J. Hum. Genet. 34:459–468.PubMedGoogle Scholar
  234. Martin, D., Tucker, D.F., Gorman, P., Sheer, D., Spurr, N.K., and Trowsdale, J., 1987, The human placental alkaline phosphatase gene and related sequences map to chromosome 2 band q37, Ann. Hum. Genet. 51:145–152.PubMedCrossRefGoogle Scholar
  235. McDermid, H.E., Duncan, A.M.V., Higgins, M.J., Hammerston, J.L., Rector, E., Brasch, K.R., and White, B., 1986, Isolation and characterization of an alpha-satellite repeated sequence from human chromosome 22, Chromosoma 94:228–234.PubMedCrossRefGoogle Scholar
  236. McKusick, V.A., 1986, The human gene map: The morbid anatomy of the human genome, Clin. Genet. 29:545–588.PubMedCrossRefGoogle Scholar
  237. McKusick, V.A., 1992, Mendelian inheritance in man (tenth edition), The Johns Hopkins University Press, Baltimore, Maryland.Google Scholar
  238. McKusick, V.A., and Neufeld, E.F., 1983, The mucopolysaccharide storage diseases, in: The Metabolic Basis of Inherited Disease (J.B. Stanbury, J.B. Wyngaarden, D.S. Fredrickson, J.L. Goldstein, and M.S. Brown, eds.), pp. 751–777, McGraw-Hill, New York.Google Scholar
  239. McWilliam, P., Farrar, G.J., Kenna, P., Bradley, D.G., Humphries, D.G., Sharp, E.M., McConnell, D.J., Lawler, M., Sheits, D., Ryan, C., Stevens, K., Daiger, S.P., and Humphries, P., 1989, Autosomal dominant retinitis pigmentosa (ADRP): Localization of an ADRP gene to the long arm of chromosome 3, Genomics 5:619–622.PubMedCrossRefGoogle Scholar
  240. Meltzer, P.S., Guan, X.-Y., and Trent, J.M., 1993, Telomere capture stabilizes chromosome breakage, Nature Genet. 4:252–255.PubMedCrossRefGoogle Scholar
  241. Miller, R.W., Fraumeni, J.F, and Manning, M.D., 1964, Association of Wilms’ tumor with aniridia, hemihypertrophy, and other congenital malformations, N. Engl. J. Med. 270:922–927.PubMedCrossRefGoogle Scholar
  242. Mitchell, A.R., Gosden, J.R., and Miller, D.A., 1985, A cloned sequence, p82H, of the alphoid repeated DNA family found at the centromeres of all human chromosomes, Chromosoma 92:369–377.PubMedCrossRefGoogle Scholar
  243. Montanaro, V., Casamassimi, A., D’Urso, M., Yvon, J.-Y., Sazzone, S., Mangeri, S., Santoro, A.M., Molta, S., and delle Valle, G., 1991, In situ hybridization to cytogenetic bands of yeast artificial chromosome covering 50% of human Xq24–Xq28 DNA, Am. J. Hum. Genet. 48:183–194.PubMedGoogle Scholar
  244. Mooibroek, H., Ojinga, J., Postmus, RE., Carritt, B., and Buys, C.H., 1987, Loss of heterozygosity for a chromosome 3 sequence presumably at 3p21 in a small cell lung cancer, Cancer Genet. Cytogenet. 27:361–363.PubMedCrossRefGoogle Scholar
  245. Morell, R., and Friedman, T.B., Moeljopawiro, S., Hartono, Soewito, and Asher, J.H. Jr., 1992, A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family, Hum. Molec. Genet. 1:243–247.PubMedCrossRefGoogle Scholar
  246. Mossman, J., Blunt, S., Stephens, R., Jones, E., and Pembrey, M., 1983, Hunter’s disease in a girl: Association with X:5 chromosomal translocation disrupting the Hunter gene, Arch. Dis. Child. 58:911–915.PubMedCrossRefGoogle Scholar
  247. Moyzis, R.K., Albright, K.L., Bartholdi, M.F, Cram, L.S., Deaven, L.L., Hildebrand, C.E., Joste, N.E., Longmire, J.L., Meyne, J., and Schwarzacher-Robinson, T., 1987, Human chromosome-specific repetitive DNA sequences: Novel markers for genetic analysis, Chromosoma 95:375–386.PubMedCrossRefGoogle Scholar
  248. Müller, U., Lalande, M., Disteche, C.M., and Latt, S.A., 1986a, Construction, analysis, and application to 46,XY gonadal dysgenesis of a recombinant phage DNA library from flow-sorted human Y chromosomes, Cytometry 7:418–424.PubMedCrossRefGoogle Scholar
  249. Müller, U., Lalande, M., Donlon, T., and Latt, S.A., 1986b, Moderately repeated DNA sequences specific for the short arm of the human Y chromosome are present in XX males and reduced in copy number in an XY female, Nucl. Acids Res. 14:1325–1340.PubMedCrossRefGoogle Scholar
  250. Müller, U., Fontaine, D., Adinolfi, M., Fraccaro, M., and Lalande, M., 1989, Analysis of complex Y chromosome aberrations using a single DNA probe (Y367), Cytogenet. Cell Genet. 50:161–164.PubMedCrossRefGoogle Scholar
  251. Munné, S., and Cohen, J., 1993, Unsuitability of multinucleated human blastomeres for preimplantation genetic diagnosis, Hum. Reprod. 8:1120–1125.PubMedGoogle Scholar
  252. Mutirangura, A., Greenberg, F., Butler, M.G., Malcolm, S., Nicholls, R.D., Chakravarti, A., and Ledbetter, D.H., 1993, Multiplex PCR of 3 dinucleotide repeats in the Prader-Willi-Angelman critical region (15q11–q13)—molecular diagnosis and mechanism of uniparental disomy, Hum. Mol. Genet. 2:143–151.PubMedCrossRefGoogle Scholar
  253. Nakamura, Y., Lathrop, M., O’Connell, P., Leppert, M., Barker, D., Wright, E., Skolnick, M., Kondoleon, S., Litt, M., Lalouel, J.-M., and White, R., 1988, A mapped set of DNA markers for human chromosome 17, Genomics 2:302–307.PubMedCrossRefGoogle Scholar
  254. Naylor, S.L., Johnson, B.E., Minna, J.D., and Sakaguchi, A.Y., 1987, Loss of heterozygosity of chromosome 3p markers in small cell lung cancer, Nature 329:451–454.PubMedCrossRefGoogle Scholar
  255. Nederlof, P.M., Robinson, D., Abuknesha, R., Wiegant, J., Hopman, A.H.N., Tanke, H.J., and Rappe, A.K., 1989, Three-color fluorescence in situ hybridization for the simultaneous detection of multiple nucleic acid sequences, Cytometry 10:20–27.PubMedCrossRefGoogle Scholar
  256. Nederlof, P.M., van der Flier, S., Wiegant, J., Raap, A.K., Tanke, H.J., Ploem, J.S., and van der Ploeg, M., 1990, Multiple fluorescence in situ hybridization, Cytometry 11:126–131.PubMedCrossRefGoogle Scholar
  257. Nowell, P.C., and Hungerford, D.A., 1960, A minute chromosome in human chronic granulocytic leukemia, Science 132:1497.Google Scholar
  258. Ohno, S., 1973, Ancient linkage groups and frozen accidents, Nature 244:259–262.CrossRefGoogle Scholar
  259. Ohta, T., Tohma, T., Soejima, H., Fukushima, Y., Nagai, T., Yoshiura, K., Jinno, Y., and Niikawa, N., 1993, The origin of cytologically unidentifiable chromosome abnormalities: Six cases ascertained by targeted chromosome-band painting, Hum. Genet. 92:1–5.PubMedCrossRefGoogle Scholar
  260. Ozcelik, T., Leff, S., Robinson, W, Donlon, T., Lalande, M., Sanjines, E., Schinzel, A., and Francke, U., 1992, Small nuclear ribonucleoprotein polypeptide N(SNRPN), an expressed gene in the Prader-Willi syndrome critical region, Nature Genet. 2:265–269.PubMedCrossRefGoogle Scholar
  261. Parra, I., and Windle, B., 1993, High resolution visual mapping of stretched DNA by fluorescent hybridization, Nature Genet. 5:17–21.PubMedCrossRefGoogle Scholar
  262. Partington, M.W., 1964, Waardenburg’s syndrome and heterochromia iridium in a deaf school population, Can. Med. Ass. J. 90:1008–1017.PubMedGoogle Scholar
  263. Patel, P.I., 1993, Charcot-Marie-Tooth disease type 1A: Mutational mechanisms and candidate gene, Curr. Opin. Genet. Devel. 3:438–444.CrossRefGoogle Scholar
  264. Patterson, D., 1991, Report of the second international workshop on human chromosome 21 mapping, Cytogenet. Cell Genet. 57:167–174.CrossRefGoogle Scholar
  265. Penketh, R.J.A., Delhanty, J.D.A., van den Berghe, J.A., Finkeistone, E.M., Handyside, A.H., Malcolm, S., and Winston, R.M.L., 1989, Rapid sexing of human embryos by nonradioactive in situ hybridization: Potential for preimplantation diagnosis of X-linked disorders, Prenat. Diagn. 9:489–500.PubMedCrossRefGoogle Scholar
  266. Pinkel, D., Landegent, J., Collins, C., Fuscoe, J., Segraves, R., Lukas, J., and Gray, J., 1988, Fluorescence in situ hybridization with human chromosome-specific libraries: Detection of trisomy 21 and translocations of chromosome 4, Proc. Natl. Acad. Sci. USA 85:9138–9142.PubMedCrossRefGoogle Scholar
  267. Pinkel, D., Straume, T., and Gray, J.W., 1986, Cytogenetic analysis using quantitative, high sensitivity, fluorescence hybridization, Proc. Natl. Acad. Sci. USA 83:2934–2938.PubMedCrossRefGoogle Scholar
  268. Plattner, R., Heerema, N.A., Howard-Peebles, P.N., Miles, J.H., Soukup, S., and Palmer, C.G., 1993b, Clinical findings in patients with marker chromosomes identified by fluorescence in situ hybridization, Hum. Genet. 91:589–598.PubMedGoogle Scholar
  269. Plattner, R., Heerema, N.A., Yurov, Y.B., and Palmer, C.G., 1993a, Efficient identification of marker chromosomes in 27 patients by stepwise hybridization with alpha-satellite DNA probes, Hum. Genet. 91:131–140.PubMedGoogle Scholar
  270. Poddighe, P.J., Ramaekers, F.C.S., and Hopman, A.H.N., 1992, Interphase cytogenetics of tumors, J. Pathol. 166:215–224.PubMedCrossRefGoogle Scholar
  271. Polak, J.M., and McGee, J.O’D., (eds.), 1990, In situ Hybridization. Principles and Practice. Oxford University Press, Oxford, England.Google Scholar
  272. Prior, T.W., Papp, A.C., Snyder, P.J., Highsmith, W.E., Friedmann, K.J., Perry, T.R., Silverman, L.M., and Mendell, J.R., 1990, Determination of carrier status in Duchenne and Becker muscular dystrophies by quantitative polymerase chain reaction and allele-specific oligonucleotides, Clin. Chem. 36:2113–2117.PubMedGoogle Scholar
  273. Rack, K.A., Harris, P.C., MacCarthy, A.B., Boone, R., Raynham, H., McKinley, M., Fitchett, M., Towe, C.M., Rudd, P., Armour, J.A.L., Lindenbaum, R.H., and Buckle, V.J., 1993, Characterization of three de novo derivative chromosomes 16 by “reverse chromosome painting” and molecular analysis, Am. J. Hum. Genet. 52:987–997.PubMedGoogle Scholar
  274. Rauch, A., Pfeiffer, R.A., Trautmann, U., Liehr, T., Rott, H.D., and Ulmer, R., 1992, A study of ten small supernumerary (marker) chromosomes identified by fluorescence in situ hybridization (FISH), Clin. Genet. 42:84–90.PubMedCrossRefGoogle Scholar
  275. Rhine, S.A., Palmer, C.G., and Thompson, J.F., 1977, A simple alternative to amniocentesis for first trimester prenatal diagnosis, Birth Defects Original Article Series XII:231–247.Google Scholar
  276. Ried, T., Baldini, A., Rand, T.C., and Ward, DC., 1992, Simultaneous visualization of seven different DNA probes by in situ hybridization using combinatorial fluorescence and digital imaging microscopy, Proc. Natl. Acad. Sci. USA 89:1388–1392.PubMedCrossRefGoogle Scholar
  277. Ried, T., Mahler, V., Vogt, P., Blonden, L., van Ommen, G.J.B., Cremer, T., and Cremer, M., 1990, Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus, Hum. Genet. 85:581–586.PubMedCrossRefGoogle Scholar
  278. Roberts, R.G., Bentley, D.R., Barby, T.G., Manners, E.M., and Bobrow, M., 1990a, Direct diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA, Lancet 336:1523–1526.PubMedCrossRefGoogle Scholar
  279. Roberts, C., Lutjen, J., Krzyminska, U., and O’Neill, C., 1990b, Cytogenetic analysis of biopsied preimplantation mouse embryos: Implications for prenatal diagnosis, Hum. Reprod. 5:197–202.PubMedGoogle Scholar
  280. Robinson, W.P., Wagstaff, J., Bernasconi, F., Baccichetti, C., Artifoni, L., Franzoni, E., Suslak, L., Shih, L.Y., Aviv, H., and Schinzel, A.A., 1993a, Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome, J. Med. Genet. 30:756–760.PubMedCrossRefGoogle Scholar
  281. Robinson, W.P., Binkert, F., Gine, R., Vazquez, C., Muller, W, Rosenkranz, W, and Schinzel, A., 1993b, Clinical and molecular analysis of five inv dup(15) patients, Eur. J. Hum. Genet. 1:37–50.PubMedGoogle Scholar
  282. Rowley, J.D, 1973, A new chromosomal abnormality in chronic myelogenous leukemia identified by quinacrine fluorescence and Giemsa staining, Nature 423:290–292.CrossRefGoogle Scholar
  283. Rowley, J.D., 1984, Biological implications of consistent chromosome rearrangements in leukemia and lymphoma, Cancer Res. 44:3159–3168.PubMedGoogle Scholar
  284. Rowley, J.D., 1988, Chromosome abnormalities in leukemia, J. Clin. Oncol. 6:194–202.PubMedGoogle Scholar
  285. Ruffe, J., and Colombier, P., 1970, Etude cytogenetique de 4 especes de primates. Comparison avec le caryotype humain, Anal. Génét. 13:3–10.Google Scholar
  286. Saito, S., Okui, K., Tokino, T., Oshimura, M., and Nakamura, Y., 1992, Isolation and mapping of 68 RFLP markers on human chromosome 6, Am. J. Hum. Genet. 50:65–70.PubMedGoogle Scholar
  287. Sandberg, A.A., Turc-Carel, C., and Gemmill, R.M., 1988, Chromosomes in solid tumors and beyond, Cancer Res. 48:1049–1059.PubMedGoogle Scholar
  288. Sanger, W., Grierson, H., Scare, J., Wyandt, H., Pirrucello, S., Fordyce, R., and Purtilo, D., 1990, Partial Xq25 deletion in a patient with X-linked lymphoproliferative disease (XLP), Cancer Genet. Cytogenet. 47:163–169.PubMedCrossRefGoogle Scholar
  289. Scambler, P.J., 1993, Deletions of human chromosome 22 and associated birth defects, Curr. Opin. Genet. Devel. 3:432–437.CrossRefGoogle Scholar
  290. Scambler, P.J., Carey, A.H., Wyse, R.K.H., Roach, S., Dumanski, J.P., Nordenskjold, M., and Williamson, R., 1991, Microdeletions within 22qll associated with sporadic and familial Di-George syndrome, Genomics 10:201–206.PubMedCrossRefGoogle Scholar
  291. Schinzel, A., 1984, Catalogue of unbalanced chromosome aberrations in man, Walter de Gruyter, Berlin, Germany.Google Scholar
  292. Schinzel, A., Schmid, W, Fraccaro, M., Tiepolo, L., Zuffardi, O., Opitz, J.M., Lindsten, J., Zetterqvist, P., Enell, H., Baccichetti, C., Tenconi, R., and Pagon, R.A., 1981, The “Cat Eye syndrome”: Dicentric small marker chromosome probably derived from a no. 22 (tetrasomy 22pter→q11) associated with a characteristic phenotype, Hum. Genet. 57:148–158.PubMedCrossRefGoogle Scholar
  293. Schwartz, S., 1993, Efficacy and applicability of interphase fluorescence in situ hybridization for prenatal diagnosis (invited editorial), Am. J. Hum. Genet. 52:851–853.PubMedGoogle Scholar
  294. Schwartz, D.C., and Cantor, C.R., 1984, Separation of yeast chromosome-sized DNAs by pulse field gradient gel electrophoresis, Cell 37:61–15.CrossRefGoogle Scholar
  295. Schwartz, C.E., Johnson, J.P., Holycross, B., Mandeville, T.M., Sears, T.S., Graul, E.A., Carey, J.C., Schroer, R.J., Phelan, M.C., Szollar, J., Flannery, D.B., and Stevenson, R.E., 1988, Detection of submicroscopic deletions in band 17p13 in patients with Miller-Dieker syndrome, Am. J. Hum. Genet. 43:597–604.PubMedGoogle Scholar
  296. Schweizer, D., Ambros, P., and Andrle, M., 1978, Modifications of DAPI banding on human chromosomes by prestaining with a DNA-banding oligopeptide antibiotic, distamycin A, Exp. Cell Res. 111:327–332.PubMedCrossRefGoogle Scholar
  297. Seizinger, B.R., Rouleau, G.A., Ozelius, L.J., Lane, A.H., Farmer, G.E., Lamiell, J.M., Haines, J., Yuen, J.W.M., Clooins, D., Majoor-Krakauer, D., Bonner, T., Mathew, C., Rubenstein, A., Halpern, J., McConkie-Rosell, A., Green, J.S., Trofatter, J.A., Ponder, B.A., Eierman, L., Bowmer, M.I., Schimke, R., Oostra, B., Aronin, N., Smith, D.I., Drabkin, H., Waziri, M.H., Hobbs, W.J., Martuza, R.L., Conneally, P.M., Hsia, Y.E., and Gusella, J.F, 1988, von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma, Nature 332:268–269.PubMedCrossRefGoogle Scholar
  298. Selleri, L., Hermanson, G.G., Eubanks, J.H., and Evans, J.A., 1991a, Chromosomal in situ hybridization using artificial chromosomes, Genet. Anal. Techniq. Applic. 8:59–66.CrossRefGoogle Scholar
  299. Selleri, L., Hermanson, G.G., Eubanks, K.A., and Evans, G.A., 1991b, Molecular localisation of the t(11;22)(q24; q12) translocation of Ewing’s sarcoma by chromosomal in situ suppressor hybridization, Proc. Natl. Acad. Sci. USA 88:887–891.PubMedCrossRefGoogle Scholar
  300. Senger, G., Lüdecke, H.-G., Horsthemke, B., and Claussen, U., 1990, Microdissection of banded human chromosomes, Hum. Genet. 84:507–511.PubMedCrossRefGoogle Scholar
  301. Seuanez, H.N., 1979, The Phylogeny of Human Chromosomes, Springer, New York.CrossRefGoogle Scholar
  302. Sharp, C.B., Bedford, H.M., and Willard, H.F, 1990, Pericentromeric structure of human X “isochromosomes”: Evidence for molecular heterogeneity, Hum. Genet. 85:330–336.PubMedCrossRefGoogle Scholar
  303. Sherlock, J., 1993, Homology of human and marmoset karyotypes. BSc thesis, University of London, England.Google Scholar
  304. Shettles, L.B., 1971, Use of the Y chromosome in prenatal sex determination, Nature 230:52.PubMedCrossRefGoogle Scholar
  305. Shtivelman, E., Gale, R.R, Dreazen, O., Berrebi, A., Zaizov, R., Kuboniski, I., Miyoshi, I., and Canaan, E., 1987, ber-ab1 RNA in patients with chronic myelogenous leukemia, Blood 69:971–973.PubMedGoogle Scholar
  306. Sinclair, A.H., Berta, P., Palmer, M.S., Hawkins, J.R., Griffiths, B.L., Smith, M.J., Foster, J.W, Frischauf, A.-M., Lovell-Badge, R., and Goodfellow, PN., 1990, A gene for the human sex-determining region encodes a protein with homology to a conserved DNA-banding motif, Nature 346:240–244.PubMedCrossRefGoogle Scholar
  307. Singer, R.H., Lawrence, J.B., Langevin, G.L., Rashtchian, R.N., Villnave, C.A., Cremer, T., Tesin, D., Manuelidis, L., and Ward, D.C., 1987, Double labeling in situ hybridization using non-isotopic and isotopic detection, Acta Histochem. Cytochem. 20:589–999.CrossRefGoogle Scholar
  308. Skare, J., Grierson, H., Sullivan, J., Nussbaum, R., Purtilo, D., Sylla, B., Lenoir, G., Reilly, D., White, B., and Milunsky, A., 1989a, Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37, Hum. Genet. 82:354–358.PubMedGoogle Scholar
  309. Skare, J., Sullivan, J., and Milunsky, A., 1989b, Mapping the mutation causing the X-linked lymphoproliferative syndrome in relation to restriction fragment length polymorphisms on Xq, Hum. Genet. 82:349–353.PubMedGoogle Scholar
  310. Skare, J., Wu, B.-L., Madan, S., Pulijaal, V., Purtilo, D., Haber, D., Nelson, D., Sylla, B., Grierson, H., Nitowsky, H., Glaser, J., Wissink, J., White, B., Holden, J., Housman, D., Lenoir, G., Wyandt, H., and Milunsky, A., 1993, Characterization of three overlapping deletions causing X-linked lymphoproliferative disease, Genomics 16:254–255.PubMedCrossRefGoogle Scholar
  311. Skre, H., 1974, Genetic and clinical aspects of Charcot-Marie-Tooth disease, Clin. Genet. 6:98–118.PubMedCrossRefGoogle Scholar
  312. Smeets, D., Scheres, J., and Justin, T., 1986, The most common fragile site in man is 3p14, Hum. Genet. 74:330.PubMedCrossRefGoogle Scholar
  313. Spranger, J., 1984, The mucopolysaccharidoses, in: Principles and Practice of Medical Genetics (A.H. Emery and D.L. Rimoin, eds.), pp. 1339–1347, Churchill Livingstone, Edinburgh, Scotland.Google Scholar
  314. Stephens, J.C., Cavanaugh, M.L., Gradie, M.I., Mador, M.L., and Kidd, K.K., 1990, Mapping the human genome: Current status, Science 250:237–244.PubMedCrossRefGoogle Scholar
  315. Stone, S., and Adinolfi, M., 1992, Carrier detection of deletions of the Hunter gene by in situ hybridization, Ann. Hum. Genet. 56:93–97.PubMedCrossRefGoogle Scholar
  316. Sullivan, J.L., Byron, K.S., Brewiter, P.E., Baker, S.M., and Ochs, H.D., 1983, X-linked lympho- proliferative syndrome, J. Clin. Invest. 71:1765–1778.PubMedCrossRefGoogle Scholar
  317. Takahashi, E., Yamakawa, K., Nakamura, Y., and Hori, T., 1992, A high-resolution cytogenetic map of human chromosome 3: Localization of 291 new cosmid markers by direct R-banding fluorescence in situ hybridization, Genomics 13:1047–1055.PubMedCrossRefGoogle Scholar
  318. Tassabehji, M., Read, A.P., Newton, V.E., Harris, R., Balling, R., Gruss, P., and Strachan, T., 1992, Waardenburg syndrome patients have mutations in the human homologue of the Pax-3 paired box gene, Nature 355:635–636.PubMedCrossRefGoogle Scholar
  319. Taylor, C.P.F., McGuckin, A.G., Bown, N.P., Reid, M.M., Malcolm, A.J., Pearson, A.D.J., and Sheer, D., 1994, Rapid detection of prognostic genetic factors in neuroblastoma using fluorescence in situ hybridization on tumor imprints and bone marrow smears, Br. J. Cancer 69:445–451.PubMedCrossRefGoogle Scholar
  320. Tchen, P., Fuchs, R.P.P., and Sage, E., 1984, Chemically modified nucleic acids as immunodetectable probes in hybridization experiments, Proc. Natl. Acad. Sci. USA 81:3466–3470.PubMedCrossRefGoogle Scholar
  321. Telenius, H., Carter, N.R, Bebb, C.E., Nordenskjold, M., Ponder, B.A.J., and Tunnacliffe, A., 1992, Degenerate oligonucleotide-primed PCR: General amplification of target DNA by a single degenerate primer, Genomics 13:718–725.PubMedCrossRefGoogle Scholar
  322. Teyssier, J.R., 1989, The chromosomal analysis of human solid tumors. A triple challenge, Cancer Genet. Cytogenet. 37:103–125.PubMedCrossRefGoogle Scholar
  323. Tiepolo, L., and Zuffardi, O., 1976, Localization of the factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm, Hum. Genet. 34:119–124.PubMedCrossRefGoogle Scholar
  324. Tkachuk, D.C., Westbrook, C.A., Andreeff, M., Donlon, T.A., Cleary, M.L., Suryanarayan, K., Homge, M., Redner, A., Gray, J., and Pinkel, D., 1990, Detection of bcr-abl fusion in chronic myelogenous leukemia by in situ hybridization, Science 250:559–562.PubMedCrossRefGoogle Scholar
  325. Tocharoentanaphol, C., Cremer, M., Schrock, E., Blonden, L., Kilian, K., Cremer, T., and Ried, T., 1994, Multicolor fluorescence in situ hybridization on metaphase chromosomes and interphase Halo-preparations using cosmid and YAC clones for the simultaneous high resolution mapping of deletions in the dystrophin gene, Hum. Genet. 93:229–235.PubMedCrossRefGoogle Scholar
  326. Tommerup, N., Van der Hagen, C.B., and Heiberg, A., 1992, Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16pl3.3 by ade novo reciprocal translocation, t(7;16)(q34; p13.3), Am. J. Med. Genet. 44:237–241.PubMedCrossRefGoogle Scholar
  327. Ton, C.T., Hirvonen, H., Miwa, H., Weil, M.M., Monaghan, P., Jordan, T., van Heyningen, V., Hastie, N.D., Meijers-Heijboer, H., Drechsler, M., Royer-Pokora, B., Collins, F., Swaroop, A., Strong, L.C., and Saunders, G.F., 1991, Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region, Cell 67:1059–1074.PubMedCrossRefGoogle Scholar
  328. Tory, K., Brauch, H., Linehan, M., Barba, D., Oldfield, E., Filling-Katz, M., Seizinger, B., Nakamura, Y., White, R., and Marshall, EE, 1989, Specific genetic change in tumors associated with von Hippel-Lindau disease, J. Natl. Cancer Inst. 81:1097–1101.PubMedCrossRefGoogle Scholar
  329. Trask, B.J., 1991, Fluorescence in situ hybridization: Application in cytogenetics and gene mapping, Trends in Genet. 7:149–154.Google Scholar
  330. Trask, B.J., Massa, H., Kenwrick, S., and Gitschier, J., 1991, Mapping of human chromosome Xq28 by two-color fluorescence in situ hybridization of DNA sequences in interphase cell nuclei, Am. J. Hum. Genet. 48:1–15.PubMedGoogle Scholar
  331. Trask, B., Pinkel, D., and van den Engh, G., 1989, The proximity of DNA sequences in interphase cell nuclei is correlated to genomic distance and permits ordering of cosmids spanning 250 Kb pairs, Genomics 5:710–717.PubMedCrossRefGoogle Scholar
  332. Triche, J.J., and Cavazzana, A.O., 1989, Pathology in pediatric oncology, in: Principles and Practice of Paediatric Oncology (P.A. Pizzo and G. Pophack, eds.), pp. 93–125, JB Lippincott Co., Philadelphia.Google Scholar
  333. Tsukada, S., Saffran, D.C., Rawlings, D.I., Parolini, O., Allen, R.C., Klisak, I., Sparkes, R.S., Kubagawa, H., Mohandas, T., Quan, S., Belmont, J.W., Cooper, M.D., Conley, M.E., and Witte, O.N., 1993, Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia, Cell 72:279–290.PubMedCrossRefGoogle Scholar
  334. Upadhyaya, M., Sarfarazi, M., and Bamforth, J.S., 1986, Localization of the gene for Hunter syndrome on the long arm of the X chromosome, Hum. Genet. 74:391–398.PubMedCrossRefGoogle Scholar
  335. Urioste, M., Visedo, G., Sanchis, A., Sentis, C., Villa, A., Ludena, P., Hortiguela, J.L., Martinezfrias, M.L., and Fernandezpiqueras, J., 1994, Dynamic mosaicism involving in unstable supernumerary der(22) chromosome in Cat Eye syndrome, Am. J. Med. Genet. 49:77–82.PubMedCrossRefGoogle Scholar
  336. van Heyningen, V., and Hastie, N.D., 1992, Wilms’ tumor: reconciling genetics and biology, Trends in Genetics 8:16–21.PubMedCrossRefGoogle Scholar
  337. Vance, J.M., Nicholson, G.A., Yamaoka, L.H., Stajich, J., Stewart, C.S., Speer, M.C., Hung, W.Y., Roses, A.O., Barker, D., and Pericak-Vance, M.A., 1989, Linkage of Charcot-Marie-Tooth Neuropathy Type la to chromosome 17, Exp. Neurol. 104:186–189.PubMedCrossRefGoogle Scholar
  338. Verma, R.S., and Luke, S., 1992, Variations in alphoid DNA sequences escape detection of aneuploidy at interphase by FISH technique, Genomics 14:113–116.PubMedCrossRefGoogle Scholar
  339. Vetrie, D., Vorechovsky, I., Sideras, P., Holland, J., Davies, A., Flinter, F., Hammarstrom, L., Kinnon, C., Levinsky, R., Bobrow, M., Smith, CLE., and Bentley, D.R., 1993, The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases, Nature 361:226–233.PubMedCrossRefGoogle Scholar
  340. Vogt, P., Keil, R., Köhler, M., Lengauer, C., Lewe, D., and Lewe, G., 1991, Selection of DNA sequences from interval 6 of the human Y chromosome with homology to a Y chromosomal fertility gene sequence of Drosophila hydei, Hum. Genet. 86:341–349.Google Scholar
  341. Von Hemel, J.O., Eussen, B., Wasby-van Swaay, E., and Oostra, B.A., 1992, Molecular detection of a translocation (Y;11) (q11.2; q24) in a 45,X male with signs of Jacobsen syndrome, Hum. Genet. 88:661–667.PubMedCrossRefGoogle Scholar
  342. Vooijs, M., Yu, L.-C., Tkakuch, D., Pinkel, D., Johnson, D., and Gray, J.W., 1993, Libraries for each human chromosome, constructed from sorter-enriched chromosomes by using linker-adaptor PCR, Am. J. Hum. Genet. 52:586–597.PubMedGoogle Scholar
  343. Waardenburg, P.J., 1951, A new syndrome combining developmental abnormalities of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness, Am. J. Hum. Genet. 3:195–253.PubMedGoogle Scholar
  344. Wapenaar, M.C., Kievits, T., Hart, K.A., Abbs, S., Blonden, L.A.J., Den Dunnen, J.T., Grootscholten, P.M., Bakker, E., Verellen-Dumoulin, C., Bobrow, M., Van Ommen, G.J.B., and Pearson, P.L., 1988, A deletion hot spot in the Duchenne muscular dystrophy gene, Genomics 2:101–108.PubMedCrossRefGoogle Scholar
  345. Warburton, D., 1991, De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints, Am. J. Hum. Genet. 49:995–1013.PubMedGoogle Scholar
  346. Ward, B.E., Gersen, S.L., Carelli, M.P., McGuire, N.M., Dackowski, W.R., Weinstein, M., Sandlin, C., Warren, R., and Klinger, K., 1993, Rapid prenatal diagnosis of chromosomal aneuploidies by fluorescence in situ hybridization: Clinical experience with 4,500 specimens, Am. J. Hum. Genet. 52:854–865.PubMedGoogle Scholar
  347. Ward, B.E., Gersen, S.L., and Klinger, K.W., 1992, A rapid (and wrong) prenatal diagnosis: Integrated genetics replies, N. Engl. J. Med. 320:1639.Google Scholar
  348. Weier, H.-U., and Gray, J.W., 1992, A degenerate alpha satellite probe, detecting a centromeric deletion on chromosome 21 in an apparently normal human male, shows limitations of the use of satellite DNA probes for interphase ploidy analysis, Anal. Cellular Path. 4:81–86.Google Scholar
  349. Wiegant, J., Kalle, W, Mullenders, L., Brookes, S., Hoovers, J.M.N., Dauwerse, J.G., Van Ommen, G.J.B., and Raap, A.K., 1992, High-resolution in situ hybridization using halo preparations, Hum. Mol. Genet. 1:587–591.PubMedCrossRefGoogle Scholar
  350. Wiegant, J., Wiesjeijer, C.C., Hoovers, J.M.N., Schuuring, E., DAzzo, A., Vrolijk, J., Tanke, H.J., and Raap, A.K., 1993, Multiple and sensitive fluorescence in situ hybridization with rhodaminefluorescein-, and coumarin-labeled DNAs, Cytogenet. Cell Genet. 63:73–76.PubMedCrossRefGoogle Scholar
  351. Wienberg, J., Jauch, A., Stanyon, R., and Cremer, T., 1990, Molecular cytotaxonomy of primates by chromosomal in situ suppression hybridization, Genomics 8:347–350.PubMedCrossRefGoogle Scholar
  352. Willard, H.F., 1985, Chromosome-specific organization of human alpha satellite DNA, Am. J. Hum. Genet. 37:524–532.PubMedGoogle Scholar
  353. Willard, H.F., 1990, Molecular cytogenetics of centromeres of human chromosomes, Chromosomes Today 10:47–60.Google Scholar
  354. Willard, H.F., 1992, Centromeres-primary constrictions are primarily complicated, Hum. Mol. Genet. 1:667–668.PubMedCrossRefGoogle Scholar
  355. Willard, H.F., and Waye, J.S., 1987, Hierarchical order in chromosome-specific human alpha satellite DNA, Trends in Genetics 3:192–198.CrossRefGoogle Scholar
  356. Winston, N.J., Braude, P.R., Pickering, S.J., George, M.A., Cant, A., Currie, J., and Johnson, M.H., 1991, The incidence of abnormal morphology and nucleocytoplasmic ratios in 2-, 3- and 5-day human pre-embryos, Hum. Reprod. 6:17–24.PubMedGoogle Scholar
  357. Wu, B.-L., Milunsky, A., Nelson, D., Schmeckpeper, B., Porta, G., Schlessinger, D., and Skare, J., 1993, High-resolution mapping of probes near the X-linked lymphoproliferative disease (XLP) locus, Genomics 17:163–170.PubMedCrossRefGoogle Scholar
  358. Wyandt, H., Grierson, H., Sanger, W, Skare, J.C., Milunsky, A., and Purtilo, D.J., 1989, Chromosome deletion of Xq25 in an individual with X-linked lymphoproliferative disease, Am. J. Med. Genet. 33:426–430.PubMedCrossRefGoogle Scholar
  359. Yagel, M.K., Parruti, G., Xu, W, Ponder, B.A.J., and Solomon, E., 1990, Genetic and physical map of the von Recklinghausen neurofibromatosis (NF1) region on chromosome 17, Proc. Natl. Acad. Sci. USA 87:7255–7259.CrossRefGoogle Scholar
  360. Yamakawa, K., Morita, R., Takahashi, E., Hori, T., Lathrob, M., and Nakamura, Y., 1991b, A genetic linkage map of 41 restriction fragment length polymorphism markers for human chromosome 3, Genomics 11:565–572.PubMedCrossRefGoogle Scholar
  361. Yamakawa, K., Takahashi, E., Saito, H., Sato, T., Oshimura, M., Hori, T., and Nakamura, Y., 1991a, Isolation and mapping of 75 new DNA markers on human chromosome 3, Genomics 9:536–548.PubMedCrossRefGoogle Scholar
  362. Yunis, J., 1984, Recurrent chromosomal defects are found in most patients with acute nonlymphocytic leukemia, Cancer Genet. Cytogenet. 11:125–137.PubMedCrossRefGoogle Scholar
  363. Yunis, J.J., Jones, C., Madden, M.T., Lu, D., and Mayer, M.G., 1989, Gene order, amplification, and rearrangement of chromosome band llq23 in hematologic malignancies, Genomics 5:84–90.PubMedCrossRefGoogle Scholar
  364. Yunis, J.J., and Prakash, O., 1982, The origin of man: A chromosomal pictorial legacy, Science 215:1525–1530.PubMedCrossRefGoogle Scholar
  365. Yunis, J.J., and Tanzer, J., 1993, Molecular mechanisms of hematologic malignancies, Crit. Rev. Oncogen. 4:161–190.Google Scholar
  366. Zhang, J., Meltzer, P., Jenkins, R., Guan, X.Y., and Trent, J., 1993, Application of chromosome microdissection probes for elucidation of BCR-ABL fusion and variant Philadelphia chromosome translocations in chronic myelogenous leukemia, Blood 12:3365–3371.Google Scholar
  367. Zheng, Y-L., Carter N.P., Price, C.M., Colman, S.M., Milton, P.J., Hackett, G.A., Greaves, M.E, and Ferguson-Smith, M.A., 1993, Prenatal diagnosis from maternal blood: Simultaneous immunophenotyping and FISH of fetal nucleated erythrocytes isolated by negative magnetic cell sorting, J. Med. Genet. 30:1051–1056.PubMedCrossRefGoogle Scholar
  368. Zheng, Y-L., Ferguson-Smith, M.A., Warner, J.P., Ferguson-Smith, M.E., Sargent, C.A., Carter, N.R, 1992, Analysis of chromosome 21 copy number in uncultured amniocytes by fluorescence in situ hybridization using a cosmid contig, Prenat. Diagn. 12:931–943.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 1994

Authors and Affiliations

  • Matteo Adinolfi
    • 1
  • John Crolla
    • 2
  1. 1.Division of Medical & Molecular Genetics, United Medical and Dental SchoolsGuy’s and St. Thomas’s HospitalsLondonEngland
  2. 2.Wessex Regional Genetics LaboratorySalisbury District HospitalSalisbury, WiltshireEngland

Personalised recommendations