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Genetic Factors Influencing Aneuploidy Frequency

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Aneuploidy

Part of the book series: Basic Life Sciences ((BLSC,volume 36))

Abstract

The presence of significant genetic or environmental risk factors for aneuploidy in the human population will almost certainly lead to heterogeneity of risk for aneuploidy among couples at risk. Such heterogeneity may be observed as a higher risk of aneuploidy among couples who have already had one aneuploid pregnancy than among those who have not. In the first section of this chapter I will discuss the existing data concerning the existence of “aneuploidy-prone” individuals or couples. I will then review a number of genetic factors which have been suggested to lead to an increased risk for human aneuploidy, examining the often conflicting evidence for such an association and possible mechanisms of action.

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References

  1. Aagesen, L., J. Grinsted, and M. Mikkelsen (1984) Advanced grandmaternal age on the mother’s side-a risk of giving rise to trisomy 21. Ann. Hum. Genet. 48: 297–301.

    Article  PubMed  CAS  Google Scholar 

  2. Alberman, E. (1981) The abortus as a predictor of future trisomy 21 pregnancies. In Trisomy 21 (Down Syndrome): Research Perspectives, F. de la Cruz and P.S. Gerald, eds. University Park Press, Baltimore, pp. 69–76.

    Google Scholar 

  3. Alberman, E., M. Elliott, M. Creasy, and R. Dhadial (1975) Previous reproductive history in mothers presenting with spontaneous abortions. Brit. J. Obstet. Gynec. 82: 366–373.

    Article  CAS  Google Scholar 

  4. Alfi, O.S., R. Chang, and S.P. Azen (1980) Evidence for genetic control of nondisjunction in man. Amer. J. Genet. 32: 477–483.

    CAS  Google Scholar 

  5. Antanarakis, S.E., S.D. Kittur, C. Metaxotou, P.C. Watkins, and A.S. Patel (1985) Analysis of DNA haplotypes suggests a genetic predisposition to trisomy 21 associated with DNA sequences on chromosome 21. Proc. Natl. Acad. Sci., USA 82: 3360–3364.

    Article  Google Scholar 

  6. Ayme, S., M.G. Mattei, J.F. Mattei, Y. Aurran, and F. Giraud (1979) Dermatoglyphics in parents of children with trisomy 21. Evaluation of their interest in genetic counselling. Clin. Genet. 15: 112–114.

    Google Scholar 

  7. Ayme, S., P. Mercier, R. Dallest, and J.F. Mattei (1984) Confirmation of a trend of restricted HLA heterogeneity in parents of Down syndrome children. Amer. J. Hum. Genet. 36: 405–412.

    PubMed  CAS  Google Scholar 

  8. Beer, A.E., J.F. Quebbeman, J.W.T. Ayers, and R.F. Haines (1981) Major histocompatibility complex antigens, maternal and paternal immune responses, and chronic habitual abortion in humans. Amer. J. Obstet. Gynecol. 141: 987–999.

    CAS  Google Scholar 

  9. Blumberg, B.D., J.D. Shulkin, J.I. Rotter, T. Mohandas, and M. Kaback (1982) Minor chromosomal variants and major chromosomal abnormalities in couples with recurrent abortion. Amer. J. Hum. Genet. 34: 948–960.

    PubMed  CAS  Google Scholar 

  10. Boue, J., and A. Boue (1973) Chromosomal analysis of two consecutive abortuses in each of 43 women. Hum. Genet. 19: 275–280.

    Article  CAS  Google Scholar 

  11. Boue, J., A. Boue, and P. Lazar (1975) Retrospective and prospective epidemiological studies of 1500 karyotyped human spontaneous abortions. Teratology. 12: 11–26.

    Article  PubMed  CAS  Google Scholar 

  12. Boue, J., H. Taillemite, P. Hazael-Massieux, C. Leonard, and A. Boue (1975) Association of pericentric inversion of chromosome 9 and reproductive failure in ten unrelated families. Hum. Genet. 30: 217–224.

    Article  CAS  Google Scholar 

  13. Breg, W.R., R.M. Fineman, A.M. Johnson, and K.K. Kidd (1981) The current status of alpha-l-anti-trypsin and other factors in Down syndrome. In Trisomy 21: Research Perspectives, F. de la Cruz and P.S. Gerald, eds. University Park Press, Baltimore, pp. 205–216.

    Google Scholar 

  14. Ferguson-Smith, M.A., and J.R.W. Yates (1984) Maternal age specific rates for chromosome aberrations and factors influencing them: Report of a collaborative European study on 52,965 amniocenteses. Prenatal Diagnosis 4: 5–44.

    Article  PubMed  Google Scholar 

  15. Fialkow, P.J. (1969) Genetic aspects of autoimmunity. Prog. Med. Genet. 11: 117–167.

    Google Scholar 

  16. Flannery, D.B., C.K. Jackson-Cook, and G.M. Bright (1984) Thyroid antibodies are associated with non-disjunction of chromosome 21. Amer. J. Hum. Genet. 36: 505.

    Google Scholar 

  17. Ford, J.H., D.F. Callen, A.B. Jahnke, and C.G. Roberts (1982) Within pair differences of human chromosome 9 C-bands associated with reproductive loss. Hum. Genet. 61: 360–363.

    Article  PubMed  CAS  Google Scholar 

  18. Ford, J.H. (1984) Spindle microtubular dysfunction in mothers of Down syndrome children. Hum Genet. 68: 295–298.

    Article  PubMed  CAS  Google Scholar 

  19. Forssman, H., and H. Adesson (1967) Consanguineous marriages and mongolism. In Mongolism, G.E.W. Wolstenholme and R. Porter, eds. Ciba Foundation Study Group 25, J & A Churchill, London, pp. 23–29.

    Google Scholar 

  20. Galloway, S.M., and K. Buckton (1978) Aneuploidy and ageing: Chromosomal studies on a random sample of the population using G-banding. Cytogenet. Cell Genet. 20: 8–95.

    Article  Google Scholar 

  21. Hassold, T.J. (1980) A cytogenetic study of repeated spontaneous abortion. Amer. J. Hum. Genet. 32: 723–730.

    PubMed  CAS  Google Scholar 

  22. Hassold, T., D. Warburton, J. Kline, and Z. Stein (1984) The relationship between maternal age and trisomy among trisomic spontaneous abortions. Amer. J. Hum. Genet. 36: 1349–1356.

    PubMed  CAS  Google Scholar 

  23. Hecht. F. (1977) The non-randomness of human chromosome abnormalities. In Population Cytogenetics, E.H. Hook and I.H. Porter, eds. Academic Press, New York, pp. 237–250.

    Google Scholar 

  24. Holzgreve, W., S.A. Schonberg, R.G. Douglas, and M.S. Golbus (1984) X- chromosome hyperploidy in couples with multiple recurrent spontaneous abortions. Obstet. Gynecol. 63: 237–240.

    PubMed  CAS  Google Scholar 

  25. Hook, E.B. (1981) Down syndrome: Frequency in human population and factors relevant to variation in rates. In Trisomy 21; (Down syndrome), F. de la Cruz and P.S. Gerald, eds. University Press, Baltimore, pp. 3–68.

    Google Scholar 

  26. Hook, E.B. (1981) Rates of chromosomal abnormalities at ditterent maternal ages. Obstet. Gynecol. 58: 282–285.

    PubMed  CAS  Google Scholar 

  27. Hook, E.B. (1983) Chromosome abnormalities and spontaneous fetal death following amniocentesis: Further data and associations with maternal age. Amer. J. Hum Genet. 35: 558–565.

    Google Scholar 

  28. Hook, E.B., and D. Warburton (1983) The distribution of chromosomal genotypes associated with Turner’s syndrome: Livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism. Hum. Genet. 64: 24–27.

    Article  PubMed  CAS  Google Scholar 

  29. Houser, P., and G.S. Pai (1984) A prospective study of low frequency X-chromosome aneuploidy in women with multiple reproductive mishaps. Amer. J. Hum. Genet. 36: 96S.

    Google Scholar 

  30. Jackson-Cook, C.K., D.B. Flannery, L.A. Corey, W.E. Nance, and J.A. Brown (1984) The double NOR variant: A risk factor in trisomy 21. Amer. J. Hum. Genet. 36: 97S.

    Google Scholar 

  31. Jacobs, P. (1980) The origin of chromosome abnormalities in spontaneous abortion. In Embryonic and Fetal Death, I.H. Porter and E.B. Hook, eds. Academic Press, New York, pp. 289–298.

    Google Scholar 

  32. Kajii, T. and A. Ferrier (1978) Cytogenetics of aborters and abortuses. Amer. J. Obstet. Gynecol. 131: 33–38.

    CAS  Google Scholar 

  33. Komlos, L., R. Zamir, H. Joshua, and I. Halbrecht (1977) Common HLA antigens in couples with repeated abortion. Clin. Immunol. Immunopathol. 7: 330–335.

    Article  PubMed  CAS  Google Scholar 

  34. Lauritsen. J.G. (1976) Aetiology of spontaneous abortion: A cytogenetic and epidemiological study of 288 abortuses and their parents. Acta Obstet. Gynecol. Scand. (Suppl.), 52: 1–29.

    Google Scholar 

  35. Lauritsen. J.G., J.K. Jorgensen, and F. Kissmeyer-Nielsen (1976) Significance of HLA and blood group incompatibility in spontaneous abortion. Clin. Genet. 9: 575–582.

    Google Scholar 

  36. Lindblom, J.B., J. Friberg, C.F. Hogman, and C. Gemzell (1972) HLA haplotypes and unexplained human infertility. Tissue Antigens 2: 352–358.

    Article  PubMed  CAS  Google Scholar 

  37. Mikkelsen, M., and J. Stene (1979) Previous child with Down-syndrome and other chromosome aberration. Group report. In Prenatal Diagnosis: Proceedings of the 3rd European Conference on Prenatal Diagnosis of Genetic Disorders, J.D. Murken, S. Stengel-Rutkowski, and E. Schwinger, eds. Enke, Stuttgart, pp. 22–29.

    Google Scholar 

  38. Miller, O.J. (1981) Role of the nucleolus organizer in the etiology of Down syndrome. In Trisomy 21: Research Perspectives, F. de la Cruz and P.S. Gerald, eds. University Press, Baltimore, pp. 153–176.

    Google Scholar 

  39. Mottironi, V.D., E.B. Hook, A.M. Willey, I.H. Porter, R.V. Swift, and N.H. Hatcher (1983) Decreased HLA heterogeneity in parents of children with Down syndrome. Am. J. Hum. Genet. 35: 1289–1296.

    PubMed  CAS  Google Scholar 

  40. Nielson, J. (1978) Large Y chromosome (Yq) and increased risk of abortion. Clin. Genet. 13: 415–416.

    Article  Google Scholar 

  41. Nowinski, G.P., S. Van Dyke, and S.L. Weiss (1983) The clinical significance of random hyperdiploid and hypodiploid cells. Amer. J. Hum. Genet. 35–146A.

    Google Scholar 

  42. Patil, S.R., and H.A. Lubs (1977) A possible association of long Y chromosome and fetal loss. Hum. Genet. 35: 233–235.

    Article  PubMed  CAS  Google Scholar 

  43. Penrose, L.S. (1964) Dermatoglyphics in mosaic mongolism and allied conditions. In Genetics Today 3, Pergamon Press, Oxford, p. 980.

    Google Scholar 

  44. Puri, R.K., K.K. Khanna, I. Bhargava, and I. Balakrishnan (1977) Role of consanguinity in chromosomal syndromes. Indian J. Med. Res. 65: 859–864.

    PubMed  CAS  Google Scholar 

  45. Ramos, C., L. Rivera, J. Beritz, E. Tejeder, E. Sanchez, and A. Sanchez-Cascos (1979) Recurrence of Down syndrome associated with microchromosomes. Hum. Genet. 49: 7–10.

    PubMed  CAS  Google Scholar 

  46. Staessen, C., A.M. Maes, M. Kirsch-Volders, and C. Susanne (1983) Is there a predisposition for meiotic non-disjunction that may be detected by mitotic aneuploidy? Clin. Genet. 24: 184–190.

    Article  PubMed  CAS  Google Scholar 

  47. Stene, J. (1970) Detection of higher recurrence risk for age-dependent chromosome abnormalities with an application to trisomy G (Down’s syndrome). Hum Hered. 20: 112–122.

    Article  PubMed  CAS  Google Scholar 

  48. Stene, J., E. Stene, and M. Mikkelsen (1984) Risk for chromosome abnormality at amniocentesis following a child with a non-inherited chromosome aberration: A European collaborative study on prenatal diagnosis, 1981. Prenatal Diagnosis. 4: 81–95.

    Article  PubMed  Google Scholar 

  49. Strobino, B., J. Kline, P. Shrout, Z. Stein, M. Susser, and D. Warburton (1980) Recurrent spontaneous abortion: Definition of a syndrome. In Human Embryonic and Fetal Death, I.H. Porter and E.B. Hook, eds. Academic Press, New York, pp. 315–330.

    Google Scholar 

  50. Taylor, C., and W.P. Fauld (1981) Prevention of recurrent abortion with leucocyte transfusions. Lancet ii: 68–70.

    Google Scholar 

  51. Verma, R.S., J.V. Shah, and H. Dosik (1983) Size of Y not associated with abortion risk. Obstet. Gynecol. 61: 633–634.

    PubMed  CAS  Google Scholar 

  52. Verp, M.S., M.S. Rzeszotarski, A.O. Martin, and J.L. Simpson (1983) Relationship between Y-chromosome length and first-trimester spontaneous abortions. Amer. J. Obstet. Gynecol. 145: 433–438.

    CAS  Google Scholar 

  53. Warburton, D., M. Hutzler, J. Kline, Z. Stein, and B Strobino (1981) Recurrence risk for trisomy following a trisomic spontaneous abortion. Amer. J. Hum Genet. 34: 149A.

    Google Scholar 

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Author information

Authors and Affiliations

  1. Department of Pediatrics and Human Genetics and Development, Columbia University, New York, New York, 10032, USA

    Dorothy Warburton

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  1. Dorothy Warburton
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Editor information

Editors and Affiliations

  1. U.S. Environment Protection Agency, Washington, D.C, USA

    Vicki L. Dellarco  & Peter E. Voytek  & 

  2. Council for Research Planning in Biological Sciences, Inc., Washington,D.C, USA

    Alexander Hollaender

  3. University of Alabama, Birmingham, Alabama, USA

    B. R. Brinkley

  4. New York State Department of Health, Albany, New York, USA

    Ernest B. Hook

  5. Duke University School of Medicine, Durham, North Carolina, USA

    Montrose J. Moses

  6. National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina, USA

    Frederick J. de Serres

  7. M. D. Anderson Hospital and Tumor Institute, Houston, Texas, USA

    T. C. Hsu

  8. Oak Ridge National Laboratory, Oak Ridge, Tennessee, USA

    Liane B. Russell

  9. Brookhaven National Laboratory, Upton, New York, USA

    Raymond R. Tice

  10. U.S. Environmental Protection Agency Research Triagle Park, North Carolina, USA

    Michael D. Waters

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© 1985 Plenum Press, New York

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Warburton, D. (1985). Genetic Factors Influencing Aneuploidy Frequency. In: Dellarco, V.L., et al. Aneuploidy. Basic Life Sciences, vol 36. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-2127-9_9

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  • DOI: https://doi.org/10.1007/978-1-4613-2127-9_9

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4612-9257-9

  • Online ISBN: 978-1-4613-2127-9

  • eBook Packages: Springer Book Archive

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