Skip to main content

The Impact of Aneuploidy Upon Public Health: Mortality and Morbidity Associated with Human Chromosome Abnormalities

  • Chapter
Aneuploidy

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

Abstract

The rationale for a conference on the etiology and mechanisms of aneuploidy is of course based upon the well-recognized association of chromosome abnormalities with human morbidity and mortality. Down syndrome, the best recognized phenotype, is only one of numerous adverse consequences of aneuploidy.

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

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 84.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Angell, R.R., A. Sandison, and A.D. Bain (1984) Chromosome variation in perinatal mortality: A survey of 500 cases. J. Med. Genet. 21: 39–44.

    Article  PubMed  CAS  Google Scholar 

  2. Anglani, F., C. Baccichetti, L. Artifoni, E. Lenzini, and R. Tenconi (1984) Frequency of abnormal karyotypes in relation to the ascertainment method in females referred for suspected sex chromosome abnormality. Clin. Genet. 25: 242–247.

    Article  PubMed  CAS  Google Scholar 

  3. Babu, V.R., D.L. Van Dyke, and C.E. Jackson (1984) Chromosome 20 deletion in human multiple endocrine neoplasia types 2A and 2B: A double- blind study. Proc. Natl. Acad. Sei., USA 81: 2525–2528.

    Article  CAS  Google Scholar 

  4. Blomquist, H.K. (1982) Mental retardation in children. An epidemiological and etiological study of mentally retarded children born 1959–1970 in a northern Swedish county. UMEA Univ. Med. Dissertations, New Series No. 76, UMEA, pp. 1–145.

    Google Scholar 

  5. Buhler, E.M., and N.J. Malik (1984) The Tricho-Rhino-Phalangeal Syndrome (s): Chromosome 8 long arm deletion: Is there a shortest region of overlap between reported cases? TRP 1 and TRP II Syndrome: Are they separate entities? Amer. J. Med. Genet. 19: 113–119.

    Article  CAS  Google Scholar 

  6. Byrne, J., D. Warburton, J. Kline, W. Blanc, and Z. Stein (in press) The morphology of early fetal deaths and their chromosomal character. Teratology.

    Google Scholar 

  7. Carothers, A.D., K.E. Buckton, S. Collyer, R. DeMey, A. Frackiewicz, J. Piper, and L. Smith (1982) The efJrect of variant chromosomes on reproductive fitness in man. Clin. Genet. 21: 280–289.

    Article  PubMed  CAS  Google Scholar 

  8. Chandley, A., P. Edmond, S. Christie, L. Gowans, J. Fletcher, A. Frackiewicz, and M. Newton (1975) Cytogenetics and infertility in men. Ann. Hum. Genet. 39: 231–252.

    Article  PubMed  CAS  Google Scholar 

  9. Coco, R., and V.B. Penchaszadeh (1982) Cytogenetic findings in 200 children with mental retardation and multiple congenital anomalies of unknown cause. Amer. J. Med. Genet. 12: 155–173.

    Article  CAS  Google Scholar 

  10. Curry, C.J.R., R.E. Magenis, M. Brown, J.T. Lanman, Jr., et al. (1984) Inherited chondrodysplasia punctata due to a deletion ot the terminal short arm of a X chromosome. New Eng. J. Med. 311: 1010–1015.

    Article  PubMed  CAS  Google Scholar 

  11. de la Chapelle, A., R. Herva, M. Koivisto, and P. Aula (1981) A deletion in chromosome 22 can cause Di George Syndrome. Hum. Genet. 57: 253–256.

    Article  PubMed  Google Scholar 

  12. Dobyns, W.B., R.F. Stratton, J.T. Parke, F. Greenberg, R.L. Nussbaum, and D.H. Ledbetter (1983) Miller-Dieker Syndrome: Lissencephaly and monosomy 17P. J. Peds. 102 (4): 552–558.

    Article  CAS  Google Scholar 

  13. Ferencz, C., G.A. Corts, J.A. Rubin, and R.J. McCarter (1984) An etiological link of cardiac, blood and collagen disorders? Presentation to the 24th Annual Meeting, Teratology Society, Boca Raton, June 5, 1984.

    Google Scholar 

  14. Fitzgerald, P.H., and C.M. McEwan (1977) Total aneuploidy and age- related sex chromosome aneuploidy in cultured lymphocytes of normal men and women. Hum. Genet. 39: 329–338.

    Article  PubMed  CAS  Google Scholar 

  15. Francke, U. (1976) Retinoblastoma and chromosome 13. Cytogenet. Cell Genet. 16: 131–134.

    Article  PubMed  CAS  Google Scholar 

  16. Francke, U., L.B. Holmes, L. Atkins, and V.M. Riccardi (1979) Aniridia-Wilm’s tumor association: Evidence for specific deletion of llpl3. Cytogenet. Cell Genet. 24: 185–192.

    Article  PubMed  CAS  Google Scholar 

  17. Froster-Iskenius, U., G. Felsch, C. Schirren, and E. Schwinger (1983) Screening for fra(x)(q) in a population of mentally retarded males. Hum. Genet. 63: 153–157.

    Article  PubMed  CAS  Google Scholar 

  18. Fryns, J.P., N. Logghe, M. van Eygen, and H. Van den Berghe (1981) Langer-Giedion syndrome and deletion of the long arm of chromosome 8. Hum. Genet. 58: 231–232.

    Article  PubMed  CAS  Google Scholar 

  19. Galloway, S.M., and K.E. Buckton (1978) Aneuploidy and ageing: chromosome studies on a random sample of the population using G-band- ing. Cytogenet. Cell Genet. 20: 78–95.

    Article  PubMed  CAS  Google Scholar 

  20. Genest, P. (19/9) Chromosome variants and abnormalities detected in 51 married couples with repeated spontaneous abortions. Clin. Genet. 16: 387–389.

    Google Scholar 

  21. Hamerton, J.L., A.I. Taylor, R. Angell, and V.M. McGuire (1965) Chromosome investigations of a small isolated human population: Chromosome abnormalities and distribution of chromosome counts according to age and sex among the population of Tristan de Cunha. Nature (London) 206: 1232–1234.

    Article  PubMed  CAS  Google Scholar 

  22. Hendry, W.F., P.E. Polani, R.C.B. Pugh, J.E. Sommerville, and D.M. Wallace (1975) 200 infertile males: Correlation of chromosome, histological, endocrine, and clinical studies. Brit. J. Urol. 47: 899–908.

    Article  PubMed  CAS  Google Scholar 

  23. Hook, E.B. (197/) Exclusion of chromosomal mosaicism: Tables of 90%, 95%, and 99% confidence limits and comments on use. Amer. J. Hum. Genet. 29: 94–97.

    Google Scholar 

  24. Hook, E.B., and J.L Hamerton (1977) The frequency of chromosome abnormalities detected in consecutive newborn studies, differences between studies, results by sex and severity of phenotypic involvement. In Population Cytogenetics: Studies in Humans, E.B. Hook and I.H. Porter, eds. Academic Press, New York, pp. 63–79.

    Google Scholar 

  25. Hook, E.B. (1978) Models and assumptions in calculating the probabilities of detecting chromosomal mosaicism. Hum. Genet. 40: 235–239.

    Article  PubMed  CAS  Google Scholar 

  26. Hook, E.B. (1979) Extra sex chromosome and human behavior: The nature of the evidence regarding XYY, XXY, XXYY, and XXX genotypes. In Genetic Aspects of Sexual Differentiation, H.L. Vallet and I.H. Porter, eds. Academic Press, New York, pp. 437–464.

    Google Scholar 

  27. Hook, E.B. (1980) Down syndrome: Frequency in human populations and factors pertinent to variation in rates. In Trisomy 21 (Down Syndrome), Research Perspectives, F. de la Cruz and P.S. Gerald, eds. University Park Press, Baltimore, pp. 3–6/.

    Google Scholar 

  28. Hook, E.B. (1981) Prevalence of chromosome abnormalities during human gestation and implications for studies of environmental mutagens. Lancet 2: 169–172.

    Article  PubMed  CAS  Google Scholar 

  29. Hook, E.B. (1983) Perspectives in mutation epidemiology: 3. Contribution of chromosome abnormalities to human morbidity and mortality and some comments upon surveillance of chromosome mutation rates. Mut. Res. 114: 389–423.

    CAS  Google Scholar 

  30. Husslein, R., J. Huber, P. Wagenbichler, and W. Schnedl (1982) Chromosome abnormalities in 150 couples with multiple spontaneous abortions. Fert. and Steril. 37 (3): 379–383.

    CAS  Google Scholar 

  31. Innes, G., A.W. Johnston, and W.M. Millar (1978) Mental subnormality in North-East Scotland. A multi-disciplinary study of total population. Scottish Health Service Studies, No. 38, Scottish Home and Health Dept., pp. 1–87.

    Google Scholar 

  32. Jacobs, P.A., P.A. Hunt, J.S. Matsuura, C.C. Wilson, and A.E. Szulman (1982) Complete and partial hydatidiform mole in Hawaii: Cytogenetics, morphology and epidemiology. Brit. J. Obst. Gynaecol. 89: 258–266.

    Article  CAS  Google Scholar 

  33. Kajii, T., and A. Ferrier (1978) Cytogenetics of aborters and abortuses. Amer. J. Obstet. Gynecol. 131 (1): 33–38.

    CAS  Google Scholar 

  34. Kajii, T., K. Ohama, and K. Mikamo (1978) Anatomic and chromosomal anomalies in 944 induced abortuses. Hum. Genet. 43: 247–258.

    Article  PubMed  CAS  Google Scholar 

  35. Kardon, N.B., J.G. Davis, A.L. Berger, and A. Broekman (1980) Incidence of chromosomal rearrangements in couples with reproductive loss. Hum. Genet. 53: 161–164.

    Article  PubMed  CAS  Google Scholar 

  36. Kelley, R.I., E.H. Zackai, B.S. Emanuel, M. Kistenmacher, F. Greenberg, and H.H. Punnett (1982) The associations of the DiGeorge anoma- lad with partial monosomy of chromosome 22. J. Peds. 101 (2): 197 - 200.

    Article  CAS  Google Scholar 

  37. Ledbetter, D.H., J.T. Mascarello, V.M. Riccardi, V.D. Harper, S.D. Airhart, and R.J. Strobel (1983) Chromosome 15 abnormalities and the Prader-Willi syndrome: A follow up report of 40 cases. Amer. J. Hum. Genet. 34: 278–285.

    Google Scholar 

  38. Linder, D., B.K. McCaw, and F. Hecht (1975) Parthenogenic origin of benign ovarian teratomas. New Eng. J. Med. 292: 63–66.

    Article  PubMed  CAS  Google Scholar 

  39. McDonald, A.D. (1973) Severely retarded children in Quebec. Prevalence, causes and care. Amer. J. Ment. Def. 78: 205–215.

    CAS  Google Scholar 

  40. Mennuti, M.T., S. Jingeleski, R.H. Schwarz, and W.J. Mellman (1978) An evaluation of cytogenetic analysis as a primary tool in the assessment of recurrent pregnancy wastage. Obstet. Gynecol. 52: 308–313.

    PubMed  CAS  Google Scholar 

  41. Moser, H.W., and P.A. Wolf (1971) The nosology of mental retardation; including the report of a survey of 1378 mentally retarded individuals at the Walter E. Fernald State School; clinical delineation of birth defects. Part 6: The nervous system. Birth Def. Prig. Art. Ser. 7 (1): 117–134.

    CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  43. Ohama, K., T. Kajii, E. Okamoto, Y. Fukuda, K. Imaizumi, M. Tsukahara, K. Kobayashi, and K. Hagiwara (1981) Dispermic origin of XY hydatidi- form moles. Nature 292: 551–552.

    Article  PubMed  CAS  Google Scholar 

  44. Pantzar, J.T., J.E. Allanson, K. Kalousek, and B.J. Poland (1984) Cytogenetic findings in 318 couples with repeated spontaneous abortion: A review of experience in British Columbia. Amer. J. Med. Genet. 17: 615–620.

    Article  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  46. Raimondi, S.C., F.W. Luthardt, R.L. Summitt, and P.R. Martens (1983) High-resolution chromosome analysis ot phenotypically abnormal patients with apparently balanced structural rearrangements. Hum. Genet. 63: 310–314.

    Article  PubMed  CAS  Google Scholar 

  47. Reindollar, R.H., J.R. Byrd, and P.G. McDonough (1981) Delayed sexual development: A study of 252 patients. Amer. J. Obstet. Gynecol. 140: 371–380.

    CAS  Google Scholar 

  48. Rieger, R., A. Michaelio, and M.M. Green (1976) Glossary of Genetics and Cytogenetics: Classical and Molecular, Springer-Verlag, Berlin, pp. 30–31.

    Google Scholar 

  49. Robinson, A., H.A. Lubs, and D. Bergsma (1979) Sex Chromosome Aneu- ploidy: Prospective Studies of Children, Alan R. Liss, Inc., New York, p. 281.

    Google Scholar 

  50. Schneider, E.L., and B. Gilman (1979) Sister chromatid exchange and aging. III. The effect of donor age on mutagen induced sister chromatid exchange in human diploid fibroblasts. Hum Genet. 46: 57–63.

    Article  PubMed  CAS  Google Scholar 

  51. Small, M.F., and D.G. Smith (1983) Chromosomal analysis of perinatal death in Macaca mulatta and Macaca radiata. Amer. J. Primatology 5: 381–384.

    Article  Google Scholar 

  52. Stewart, D.A. (1982) Children with Sex Chromosome Aneuploidy: Follow Up Studies, Alan R. Liss, Inc., New York, p. 251.

    Google Scholar 

  53. Sutherland, G.R. (1979) Heritable fragile sites on human chromosomes. II. Distribution, phenotypic effects and cytogenetics. Amer. J. Hum. Genet. 31: 136–148.

    PubMed  CAS  Google Scholar 

  54. Sutherland, G.R., R.F. Carter, R. Bauld, I.I. Smith, and A.D. Bain (1978) Chromosome studies at the pediatric necropsy. Ann. Hum. Genet. 42: 178–181.

    Article  Google Scholar 

  55. Szulman, A.E., and U. Surti (1978) The syndromes of hydatidiform mole. II. Morphologic evolution of the complete and partial mole. Amer. J. Obstet. Gynecol. 132: 20–27.

    CAS  Google Scholar 

  56. Tharapel, A.T., and R.L. Summitt (1977) A cytogenetic survey of 200 unclassifiable mentally retarded children with congenital anomalies and 200 normal controls. Hum. Genet. 37: 329–338.

    Article  PubMed  CAS  Google Scholar 

  57. Tierney, I., D. Axworthy, L. Smith, and S.G. Ratcliffe (1984) Balanced rearrangements of the autosomes: Results of a longitudinal study of a newborn survey population. J. Med. Genet. 21: 45–51.

    Article  PubMed  CAS  Google Scholar 

  58. Turner, G., and P.A. Jacobs (1983) Marker (X)-linked mental retardation. Adv. Hum. Genet. 13: 83–112.

    PubMed  CAS  Google Scholar 

  59. Verma, R.S., J. Shah, and H. Dosik (1983) Size of Y chromosome not associated with abortion risk. Obst. Gynecol. 61 (5): 633–634.

    CAS  Google Scholar 

  60. Warburton, D., Z. Stein, J. Kline, and M. Susser (1980) Chromosome abnormalities in spontaneous abortion: Data from the New York City study. In Human Embryonic and Fetal Death, I.H. Porter and E.B. Hook, eds. Academic Press, New York, pp. 261–287.

    Google Scholar 

  61. Ward, B.G., G.P. Henry, and A. Robinson (1980) Cytogenetic studies in 100 couples with recurrent spontaneous abortions. Amer. J. Hum. Genet. 32: 549–554.

    PubMed  CAS  Google Scholar 

  62. Wertelecki, W., P. Logsdon, and V.G. Dev (1983) Multiple premature centromere separation in a patient without Roberts syndrome. Amer. J. Hum. Genet. 35: 160A.

    Google Scholar 

  63. Yamamoto, M., and G. Watanabe (1979) Epidemiology of gross chromosomal anomalies at the early embryonic stage of pregnancy. Contr. Epidem. Biostatist. 1: 101–106.

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 1985 Plenum Press, New York

About this chapter

Cite this chapter

Hook, E.B. (1985). The Impact of Aneuploidy Upon Public Health: Mortality and Morbidity Associated with Human Chromosome Abnormalities. 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_2

Download citation

  • DOI: https://doi.org/10.1007/978-1-4613-2127-9_2

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4612-9257-9

  • Online ISBN: 978-1-4613-2127-9

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics