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Detection of Chromosomal Aberrations in Interphase and Metaphase Cells in Prenatal and Postnatal Studies

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In Situ Hybridization Protocols

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

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Abstract

The identification of numerical and structural chromosome abnormalities by routine and high resolution cytogenetic studies plays an important role in the diagnosis and treatment of various diseases. The analysis of structural aberrations is relatively gross and only permits the visual diagnosis of aberrations of single chromosome bands on the order of about seven million base pairs. Chromosome aberrations involving less than five million or so base pairs or those with indistinct banding patterns are difficult or impossible to detect using routine or high resolution cytogenetic studies. Standard cytogenetic techniques also require that the cells to be analyzed must be actively dividing and that they may be arrested during metaphase, thus requirmg a substantial amount of time for sample preparation and analysis.

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References

  1. Rhoads, G. G, Jackson, L G., Schlesselman, S. E, De la Cruz, F. F, Desnick, R J., Golbus, M S, Ledbetta, D H, Lubs, H A, Mahoney, M J., Pergament, E, Simpson, J L, Carpenter, R. J., Elias, S., Ginsberg, N. A., Goldberg, J D, Hobbins, J C, Lynch, C, Shiono, P. H., Wapner, R. J, and Zachary, J M (1989) The safety and efficacy of chononic villus sampling for early prenatal diagnosis of cytogenetic abnormalities. N. Engl J Med. 320, 609–617

    Article  PubMed  CAS  Google Scholar 

  2. Robinson, A, Bender, B, and Linden, M (1991) Prognosis of prenatally diagnosed children with sex chromosome abnormalitie Birth Defects 15, 203–241

    Google Scholar 

  3. Cremer, T., Landegent, J, Bruckner A, School, H P, 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

    Article  PubMed  CAS  Google Scholar 

  4. Klinger, K. W., Dakowski, W., Leverone, B, Locke, P, Nass, S. G, Lerner, T, and Landes, G (1990) Prenatal detection of aneuploidy of 21,18, 13, X, or Y by interphase in situ hybridization. Am J. Hum. Genet. (Suppl. 47), A224

    Google Scholar 

  5. 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

    PubMed  CAS  Google Scholar 

  6. Rosenberg, C, Blakemore, K. J, Kearns, W G, Giraldez, R A, Escallon, C. S., Pearson, P. L., and Stetten, G (1992) Analysis of reciprocal translocation by chromosome painting applications and limitations of the technique. Am. J Hum. Genet 50, 700–705.

    PubMed  CAS  Google Scholar 

  7. Rosenberg, C, Stetten, G., Kearns, W G, Littlefield, J W, Thomas, G, and Pearson, P L (1991) Use of DNA libraries and fluorescent m situ hybridization to identify translocations and duplications. Am. J Hum Genet (Suppl.)49, 306

    Google Scholar 

  8. Batista, D. A.S, Tuck-Muller, C. M., Martinez, J E, Kearns, W G, Pearson, P L, and Stetten, G. (1993) A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization Hum Genet. 92, 117–121.

    Article  PubMed  CAS  Google Scholar 

  9. Blakemore, K J, Rosenberg, C, Jaswaney, V. L, Pressman, E. K, Kearns, W G., Pearson, P L, and Stetten, G (1993) Rapid diagnosis of trisomy 18 and dizygosity in twins using fluorescence in situ hybridization on uncultured amniocytes J Mat-Fet Med. 2, 197–200

    Google Scholar 

  10. Smith, D W (1964) Autosomal abnormalities Am. J. Obstet. Gynecol 90, 1055–1077.

    PubMed  Google Scholar 

  11. Carter, P E., Pearn, J. H., Bell, J, Martin, N, and Anderson, N G (1985) Survival in trisomy 18. Clin. Genet. 27, 59–61.

    Article  PubMed  CAS  Google Scholar 

  12. Ward, B. E., Gersen, S. L, Carelh, M P, McGuire, N. M., Dackowski, W R., Weinstein, M, Sandlin, C, Warren, R, and Klinger, K W (1993) Rapid prenatal diagnosis of chro-mosomal aneuploidies by fluorescence in situ hybridization, clinical experience with 4500 specimens. Am. J Hum. Genet. 52, 854–865.

    PubMed  CAS  Google Scholar 

  13. Rosenberg, C, Blakemore, K J, Kearns, W G, Giraldez, R A., Escallon, C. S, Pearson, P. L., and Stetten, G. (1992) Analysis of reciprocal translations by chromosome painting, applications and limitations of the technique. Am. J Hum. Genet. 50, 700–705

    PubMed  CAS  Google Scholar 

  14. Kraker, W. J, Borell, T. J., Schad, C. R, Pennington, M. J., Karnes, P. S., Dewald, G. W, and Jenkins, R B. (1992) Fluorescent in situ hybridization: use of whole chromosome paint probes to identify unbalanced chromosome translocations. Mayo Clin. Proc 67, 658–662.

    PubMed  CAS  Google Scholar 

  15. Steinbach, P. and Benz, R. (1983) Demonstration of gene dosage effects for AK3 and GALT in fibroblasts from a fetus with 9p trisomy. Hum. Genet 63, 290,291

    PubMed  CAS  Google Scholar 

  16. Ebbin, A., J, Wilson, M G, Towner, J W, and Slaughter, J P. (1973) Prenatal diagnosis of an inherited translocation between chromosomes no. 9 and 18 J Med. Genet. 10, 65–69.

    Article  PubMed  CAS  Google Scholar 

  17. Melnyk, A, R., Weiss, L, Van Dyke, D L., and Jarvi, P (1981) Malformation syndrome of duplication 12q24 l→qter. Am J. Med. Genet 10, 357–365

    Article  PubMed  CAS  Google Scholar 

  18. Therman, E and Patau, K (1974) Abnormal X chromosomes in man: origin, behavior and effects. Humangenetik 25, 1–16

    PubMed  CAS  Google Scholar 

  19. Tuck-Miller, C M., Martinez, J. E., Batista, D A.S., Kearns, W. G., and Wertelecki, W (1993) Duplication of the short arm of the X chromosome in mother and daughter Hum Genet. 91, 395–400.

    Google Scholar 

  20. Pai, G S and Thomas, G. H (1980) A new R-banding technique in clinical cytogenetics Hum. Genet 54, 41–45

    Article  PubMed  CAS  Google Scholar 

  21. Wilson, M. G., Modebe, O., Towner, J. W., Frasier, S. D., and Lin, M. S. (1983) Ullrich-Turner syndrome associated with interstitial deletion of Xpll 2→p22 31 Am J Med Genet. 14, 567–576.

    Article  PubMed  CAS  Google Scholar 

  22. Kousseff, B. G, Nichols, P., Essig, Y P., Miller, K, Weiss, A., and Tedesco, T. A. (1987) Complex chromosome rearrangements and congenital anomalies Am J Med Genet. 26, 771–782

    Article  PubMed  CAS  Google Scholar 

  23. Bass, H N, Sparkes, R. S, Lessner, M. M, Fox, M, Phoenix, B, and Bernar, J. (1985) A family with three independent autosomal translocations associated with 7q32→7qter syndrome J Med Genet. 22, 59–63

    Article  PubMed  CAS  Google Scholar 

  24. Meer, B., Wolff, G., and Back, E. (1981) Segregation of a complex rearrangement of chromosomes 6, 7, 8, and 12 through three generations. Hum Genet. 58, 221–225

    Article  PubMed  CAS  Google Scholar 

  25. Kleczkowska, A, Fryns, J. P., and van den Berghe, H (1982) Complex chromosomal rearrangements (CCR) and their genetic consequences. J Genet. Hum. 30, 199–214

    PubMed  CAS  Google Scholar 

  26. Walker, A., P. and Bocian, M. (1987) Partial duplication 8ql2→q21 2 in two sibs with maternally derived insertional and reciprocal translocations case reports and review of partial duplications of chromosome 8. Am. J. Med Genet. 27, 3–22

    Article  PubMed  CAS  Google Scholar 

  27. Gorski, J L, Kistenmacher, M L, Punnett, H H, Zackai, E. H., and Emanuel, B S (1988) Reproductive risks for carriers of complex chromosomal rearrangements analysis of 25 families Am J. Med. Genet 29, 247–261.

    Article  PubMed  CAS  Google Scholar 

  28. Hook, E. B. and Cross, P. K (1987) Rates of mutant and inherited structural cytogenetic abnormalities detected at amniocentesis. results on about 63,000 fetuses. Ann. Hum Genet 51, 27–55.

    Article  PubMed  CAS  Google Scholar 

  29. Willey, A. M., Carter, T. P, Kelly, S., and Porter, I H., eds. (1982) Clinical Genetics Problems in Diagnosis and Counseling. Academic, New York, pp 63–75.

    Google Scholar 

  30. Warburton, D. (1984) Outcome of cases of de novo structural rearrangements diagnosed at amniocentesis. Prenat Diagn. (Spec. Iss) 4, 69–80

    Article  Google Scholar 

  31. Bogart, M H, Bradshaw, C L, Jones, O W, and Schanberger, J E (1986) Prenatal diagnosis and follow up of a child with a complex chromosome rearrangement J Med Genet. 23, 180–183

    Article  PubMed  CAS  Google Scholar 

  32. Stoll, C, Flori, E., MacLear, J, and Renaud, R. (1979) Prenatal diagnosis and postnatal follow-up of an abnormal child with two de novo apparently balanced translocations Hum Genet. 47, 221–224

    Article  PubMed  CAS  Google Scholar 

  33. Kim, H. J., Perle, M A, Bogosian, V., and Greco, A (1986) Prenat. al diagnosis of a de novo complex chromosomal rearrangement involving four chromosomes. Prenat. Diagn. 6, 211–216.

    Article  PubMed  CAS  Google Scholar 

  34. Batista, D A. S., Tuck-Muller, C. M., Martinez, J. E., Kearns, W. G, Pearson, P. L, and Stetten, G. (1993) A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization. Hum. Genet. 92, 117–121

    Article  PubMed  CAS  Google Scholar 

  35. Mizunoe, T. and Young, S R (1992) Low fluorescence alpha satellite region yields negative result. Prenat. Diagn 12, 549,550

    Article  PubMed  CAS  Google Scholar 

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Author information

Authors and Affiliations

  1. Center for Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, MD

    William G. Kearnsand & Peter L. Pearson

  2. Center for Pediatric Research, Children’s Hospital of the King’s Daughters, Eastern Virginia Medical School, Norfolk, VA

    William G. Kearnsand

Authors
  1. William G. Kearnsand
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  2. Peter L. Pearson
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Editor information

Editors and Affiliations

  1. Murdoch Institute, Melbourne, Australia

    K. H. Andy Choo

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© 1994 Humana Press Inc.

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Kearnsand, W.G., Pearson, P.L. (1994). Detection of Chromosomal Aberrations in Interphase and Metaphase Cells in Prenatal and Postnatal Studies. In: Choo, K.H.A. (eds) In Situ Hybridization Protocols. Methods in Molecular Biology™, vol 33. Humana Press. https://doi.org/10.1385/0-89603-280-9:459

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  • DOI: https://doi.org/10.1385/0-89603-280-9:459

  • Publisher Name: Humana Press

  • Print ISBN: 978-0-89603-280-4

  • Online ISBN: 978-1-59259-520-4

  • eBook Packages: Springer Protocols

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