Skip to main content
SpringerLink
Log in
Book cover

In Situ Hybridization Protocols pp 439–458Cite as

Characterization of Constitutive Marker Chromosomes in Humans

  • Protocol

  • 668 Accesses

Part of the book series: Methods in Molecular Biology™ ((MIMB,volume 33))

Abstract

A marker chromosome is one that is morphologically different from any normal chromosome with its origin not being readily discernible by classical cytogenetic techniques. Marker chromosomes in neoplasia often represent the products of complex rearrangements and will not be discussed in this chapter. From a large series of 377,357 karyotyped amniocentesis specimens in a multicenter survey, an unbiased estimate of the frequency of de novo constitutional marker chromosomes was 1 in 2500 (1). The overall population frequency will be higher than this since markers identified as i(18p) or i(12p), and markers that were familial, were excluded. Since the proportion of familial markers is in the vicinity of 40% (2), the actual population frequency of marker chromosomes is about 1 in 1200.

This is a preview of subscription content, log in via an institution.

Springer Nature is developing a new tool to find and evaluate Protocols. Learn more

References

  1. 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

    PubMed  CAS  Google Scholar 

  2. Sachs, E. S., Van Hemel, J. O, Den Hollander, J. C, and Jahoda, M. G. J (1987) Marker chromosomes in a series of 10 000 prenatal diagnoses. Cytogenetic and follow-up studies. Prenat Diagn 7, 81–89

    Article  PubMed  CAS  Google Scholar 

  3. Callen, D. F., Eyre, H, 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.

    Article  PubMed  CAS  Google Scholar 

  4. Winsor, E J. T and Van Allen, M. I. (1989) Familial marker chromosome due to 31 disjunction of t(9;15) in a grandparent. Prenat. Diagn. 9, 851–855

    Article  PubMed  CAS  Google Scholar 

  5. Miny, P., Basaran, S, Kuwertz, E., Holzgreve, W, and Pawlowitzki, I-H (1986) Inv dup (15). prenatal diagnosis and postnatal follow-up. Prenat. Diagn. 6, 303–306.

    Article  PubMed  CAS  Google Scholar 

  6. Page, D. C. (1987) Hypothesis a Y-chromosomal gene causes gonadoblastoma in dysgenetic gonads Development 101, Suppl. 151–155.

    PubMed  Google Scholar 

  7. Ostrer, H., Henderson, A L., and Stringer, L. C (1987) Characterization of Y chromosomal deoxyribonucleic acid fragments and translocations by Southern blot analysis. J Pediatr. 111, 678–683

    Article  PubMed  CAS  Google Scholar 

  8. Wolfe, J, Darling, S., Erickson, R., Craig, I., Buckle, V, Rigby, P, Willard, H, and Goodfellow, P. (1985) Isolation and characterization of an alphoid centromeric repeat family from the human Y chromosome J. Mol Biol 182, 477–485

    Article  PubMed  CAS  Google Scholar 

  9. Tho, S. P. T., Behzadian, A, Byrd, J. R., and McDonough, P G (1988) Use of human asatellite deoxyribonucleic acid to detect Y-specific centromeric sequences. Am J Obstet Gynecol 159, 1553–1557

    PubMed  CAS  Google Scholar 

  10. Pohlschmidt, M., Rappold, G., Krause, M., Ahlert, D, Hosenfeld, D, and Weissenbach, J, Gal, A (1991) Ring Y chromosome: molecular characterization by DNA probes. Cytogenet Cell Genet. 56, 65–68

    Article  PubMed  CAS  Google Scholar 

  11. Crolla, J A. and Llerena Jr, 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.

    Article  PubMed  CAS  Google Scholar 

  12. Koch, J, KØlvraa, S., Hobolt, N, Petersen, G B, Willard, H F, Waye, J S, Gregersen, N., and Bolund, L. (1990) A case of 46,XX,r(X)(plql) diagnosed by in situ hybridization. Clin. Genet. 37, 216–220

    Article  PubMed  CAS  Google Scholar 

  13. Jacobs, P A., Betts, P. R, Cockwell, A E., Crolla, J A, MacKenzie, M J, Robinson, D O, and Youmgs, S. A. (1990) A cytogenetic and molecular reappraisal of a series of patients with Turner’s syndrome Ann. Hum Genet 54, 209–223.

    Article  PubMed  CAS  Google Scholar 

  14. Lin, C. C, Meyne, J., Sasi, R., Bowen, P., Unger, T, Tainaka, T., Hadro, T. A, and Hoo, J J (1990) Determining the origins and the structural aberrations of small marker chromosomes in two cases of 45,X/46,X,+mar by use of chromosome-specific DNA probes Am. J. Med. Genet 37, 71–78.

    Article  PubMed  CAS  Google Scholar 

  15. Johnson, V. P., McDonough, P. G., Cheung, S W., and Sun, L. (1991) Sex chromosome marker: clinical significance and DNA characterization Am. J Med. Genet 39, 97–101

    Article  PubMed  CAS  Google Scholar 

  16. Lindgren, V, Chen, C, Bryke, C R., Lichter, P, Page, D C, and Yang-Feng, T L. (1992) Cytogenetic and molecular characterization of marker chromosomes in patients with mosaic 45,X karyotypes Hum. Genet. 88, 393–398

    Article  PubMed  CAS  Google Scholar 

  17. 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.

    Article  PubMed  CAS  Google Scholar 

  18. Wisniewski, L, Hassold, T., Heffelfinger, J, and Higgins, J. V (1979) Cytogenetic and clinical studies in five cases of inv dup(15) Hum. Genet. 50, 259–270

    Article  PubMed  CAS  Google Scholar 

  19. Schinzel, A (1990) Letter to the editor: autistic disorder and additional inv dup(15)(pter→ ql3) chromosome Am. J. Med. Genet 35, 447

    Article  PubMed  CAS  Google Scholar 

  20. Wisniewski, L. P and Doherty, R A (1985) Supernumerary microchromosomes identified as inverted duplications of chromosome 15: a report of three cases, Hum Genet 69, 161–163

    Article  PubMed  CAS  Google Scholar 

  21. 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.

    Article  PubMed  CAS  Google Scholar 

  22. Plattner, R., Heerema, N A., Patil, S. R, Howard-Peebles, P N, and Palmer, C G. (1991) Characterization of seven DA/DAPI-positive bisatellited marker chromosomes by in situ hybridization. Hum Genet. 87, 290–296

    Article  PubMed  CAS  Google Scholar 

  23. Stetten, G, Blakemore, K. J, Courter, A M, Coss, C A, and Jabs, E. W (1992) Prenatal identification of small mosaic markers of different chromosomal origins. Prenat Diagn 12, 83–91.

    Article  PubMed  CAS  Google Scholar 

  24. Dahoun-Hadorn, S. and Delozier-Blanchet, C. (1990) Reflections on small supernumerary (marker) chromosomes: could imprinting and isodisomy play a role in the phenotypic expression of hyperdiploidy? Ann Génét 33, 241,242

    PubMed  CAS  Google Scholar 

  25. Ledbetter, D. H., Mascarello, J. T, Riccardi, V M, Harper, V D, Airhart, S D., and Strobel, R. J. (1982) Chromosome 15 abnormalities and the Prader-Willi syndrome a follow-up report of 40 cases. Am J Hum Genet. 34, 278–285.

    PubMed  CAS  Google Scholar 

  26. Butler, M. G., Meaney, F. J., and Palmer, C G. (1986) Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome. Am. J. Med. Genet. 23, 793–809.

    Article  PubMed  CAS  Google Scholar 

  27. Robinson, W. P., Bottani, A, Yagang, X., Balakrishman, J., Binkert, F., Machler, M, Prader, A, and Schinzel, A (1991) Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients Am. J Hum Genet. 49, 1219–1234

    PubMed  CAS  Google Scholar 

  28. Trent, R J, Volpato, F., Smith, A, Lindeman, R., Wong, M.-K, Warne, G., and Haan, E (1991) Molecular and cytogenetic studies of the Prader-Willi syndrome J Med. Genet 28, 649–654.

    Article  PubMed  CAS  Google Scholar 

  29. Metzdorf, R., Gotten, E, and Blin, N (1988) A novel centromeric repetitive DNA from human chromosome 22 Chromosoma (Berl) 97, 154–158

    Article  CAS  Google Scholar 

  30. Devilee, P., Cremer, T., Slagboom, P., Bakker, E., Scholl, H. P., Hager, H. D., Stevenson, A. F. G., Cornelisse, C. J., and Pearson, P. L. (1986) Two subsets of human alphoid repetitive DNA show distinct preferential localization in the pericentnc regions of chromosomes 13, 18, and 21 Cytogenet. Cell Genet 41, 193–201

    Article  CAS  Google Scholar 

  31. 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

    Article  PubMed  CAS  Google Scholar 

  32. Plattner, R, Heerema, N A, Yurov, Y B, and Palmer, C G (1993) Efficient identification of marker chromosomes in twenty-seven patients by stepwise hybridization with alpha-satellite DNA probes. Hum Genet. 91, 131–140

    PubMed  CAS  Google Scholar 

  33. McDermid, H E, Duncan, A M V., Brasch, K R., Holden, J J A, Magenis, E., Sheeny, R., Burn, J, Kardon, N, Noel, B, Schinzel, A., Teshima, I., and White, B N (1986) Characterization of the supernumerary chromosome in cat eye syndrome. Science 232, 646–648

    Article  PubMed  CAS  Google Scholar 

  34. Magenis, R. E., Sheehy, R. R., Brown, M. G., McDermid, H. E, White, B. N, Zonana, J, and Weleber, R (1988) Parental origin of the extra chromosome in the cat eye syndrome evidence from heteromorphism and in situ hybridization analysis Am. J. Med Genet 29, 9–19

    Article  PubMed  CAS  Google Scholar 

  35. Heppell-Parton, A. C. and Waters, J. J (1991) Robertsonian translocation and an extra microchromosome independent origin identified by in situ hybridization. Clin Genet 39, 93–96

    Article  PubMed  CAS  Google Scholar 

  36. Rivera, H, Möller, M., Hernández, A., Enníquez-Guerra, M. A., Arreola, R., and Cantú, J. M. (1984) Tetrasomy 18p: a distinctive syndrome Ann. Genet 27, 187–189

    PubMed  CAS  Google Scholar 

  37. Callen, D F, Freemantle, C. J., Ringenbergs, M L, Baker, E, Eyre, H J, Romain, D, and Haan, E. A. (1990) The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization. Am J Hum Genet 47, 493–498

    PubMed  CAS  Google Scholar 

  38. Blennow, E and Nielsen, K B (1991) Molecular identification of a small supernumerary marker chromosome by in situ hybridization· diagnosis of an isochromosome 18p with probe LI.84. Clin. Genet 39, 429–433

    Article  PubMed  CAS  Google Scholar 

  39. Mattei, M G., Philip, N., Passage, E., Moisan, J. P., Mandel, J. L., and Mattei, J. F. (1985) DNA probe localization at 18pl 13 band by in situ hybridization and identification of a small supernumerary chromosome. Hum. Genet. 69, 268–271.

    Article  PubMed  CAS  Google Scholar 

  40. Park, V. M., Gustashaw, K M, Bilenker, R. M., and Golden, W L (1991) Diagnosis of tetrasomy 18p using in situ hybridization of a DNA probe to metaphase chromosomes. Am. J. Med Genet. 41, 180–183.

    Article  PubMed  CAS  Google Scholar 

  41. Balestrazzi, P., Croci, G, Frassi, C, Franchi, F, and Giovannelli, G. (1983) Tetrasomy 9p confirmed by GALT J Med. Genet. 20, 396–399.

    Article  PubMed  CAS  Google Scholar 

  42. Kristoffersson, U, Lagergren, J., Heim, S., and Mandahl, N (1988) Four copies of 8p in a mentally retarded boy with the mosaic karyotype 47,XY,+i(8p)/46,XY Clin. Genet. 34, 201–203.

    Article  PubMed  CAS  Google Scholar 

  43. Fisher, A M, Barber, J. C. K, Crolla, J A, Lestas, A N, Jennings, I, and Dennis, N. R. (1993) Mosaic tetrasomy 8p. Molecular cytogenetic confirmation and measurement of glutathione reductase and tissue plasminogen activator levels Am J Med. Genet 47, 100–105

    Article  PubMed  CAS  Google Scholar 

  44. Speleman, F., Leroy, J. G, Van Roy, N., De Paepe, A., Suijkerbuijk, R., Brunner, H, Looijenga, L., Verschraegen-Spae, M.-R, and Orye, E (1991) Pallister-Killian syndrome Characterization of the isochromosome 12p by fluorescent in situ hybridization Am. J Med Genet. 41, 381–387

    Article  PubMed  CAS  Google Scholar 

  45. Reeser, S. L T and Wenger, S. L. (1992) Failure of PHA-stimulated i(12p) lymphocytes to divide in Pallister-Kilhan syndrome Am. J. Med. Genet. 42, 815–819.

    Article  PubMed  CAS  Google Scholar 

  46. Stanley, W. S., Powell, C. M, Devine, G C, Ellingham, T., Samango-Sprouse, C. A, Vaught, D. R., Murphy, B. A, and Rosenbaum, K. N. (1993) Mosaic 5p tetrasomy Am. J. Human Genet. 45, 774–776

    CAS  Google Scholar 

  47. Andersen, L. B., Tommerup, N, and Koch, J. (1990) Formation of a minichromosome by excision of the proximal region of 17q in a patient with von Recklinghausen neurofibromatosis Cytogenet. Cell Genet. 53, 206–210.

    Article  CAS  Google Scholar 

  48. Callen, D F., Ringenbergs, M. L, Fowler, J. C S, Freemantle, C J., and Haan, E A (1990) Small marker chromosomes in man: origin from pericentnc heterochromatin of chromosomes 1, 9, and 16 J. Med. Genet. 27, 155–159

    Article  PubMed  CAS  Google Scholar 

  49. 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.

    PubMed  CAS  Google Scholar 

  50. Raimondi, E., Ferretti, L., Young, B. D., Sgaramella, V., and De Carli, L (1991) The origin of a morphologically unidentifiable human supernumerary minichromosome traced through sorting, molecular cloning, and in situ hybridization J Med. Genet 28, 92–96.

    Article  PubMed  CAS  Google Scholar 

  51. Haaf, T., Summer, A. T., Kohler, J., Willard, H. F, and Schmid, M (1992) A microchromosome derived from chromosome 11 in a patient with the CREST syndrome of scleroderma. Cytogenet Cell Genet 60, 12–17

    Article  PubMed  CAS  Google Scholar 

  52. Meltzer, P. S., Guan, X.-Y, Burgess, A., and Trent, J. M (1992) Rapid generation of region specific probes by chromosome microdissection and their application Nature Genet. 1, 24–28

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Cytogenetics and Molecular Genetics, Adelaide Children’s Hospital, North Adelaide, Australia

    David F. Callen

Authors
  1. David F. Callen
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Murdoch Institute, Melbourne, Australia

    K. H. Andy Choo

Rights and permissions

Reprints and permissions

Copyright information

© 1994 Humana Press Inc.

About this protocol

Cite this protocol

Callen, D.F. (1994). Characterization of Constitutive Marker Chromosomes in Humans. In: Choo, K.H.A. (eds) In Situ Hybridization Protocols. Methods in Molecular Biology™, vol 33. Humana Press. https://doi.org/10.1385/0-89603-280-9:439

Download citation

  • DOI: https://doi.org/10.1385/0-89603-280-9:439

  • Publisher Name: Humana Press

  • Print ISBN: 978-0-89603-280-4

  • Online ISBN: 978-1-59259-520-4

  • eBook Packages: Springer Protocols

Publish with us

Policies and ethics

Search

Navigation