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Epidemiologic Aspects of Down Syndrome

Sex Ratio, Incidence, and Recent Impact of Prenatal Diagnosis

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Abstract

A recent study of more than one million consecutive live births in British Columbia found that 53/1000 had diseases with an important genetic component before approximately 25 years of age (Baird et al., 1988). Down syndrome was only 2.3% of this total (1.22/1000), but studies of severe mental retardation in children over 1 year of age in two Swedish counties found 33% had Down syndrome, out of a prevalence of severe mental retardation at 1 to 16 years of age of 3.5/1000 (Gustavson et al., 1977a,b). Additionally, the prevalence rate of retardation dropped 42% from 1959–1962 to 1967–1970 in these studies, mainly as a result of a 54% decline in births with Down syndrome. More recent reports (Hook, 1983a; Kiely, 1987) supported these results. Baird and Sadovnick (1988a) also showed that the probability of survival of live births with Down syndrome has continued to increase, and that currently 44% survive to age 60. These studies reinforce the substantial contribution births with Down syndrome make to the problem of human health, and the positive result to be obtained from their prevention.

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References

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

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  • Antonarakis, S. E., Chakravarti, A., Warren, A. C., Slaugenhaupt, S. A., Wong, C., Halloran, S. L., and Metaxotou, C. 1986. Reduced recombination rate on chromosome 21 that have undergone nondisjunction. Cold Spring Harbor Symp. Quant. Biol. 51:185–190.

    PubMed  CAS  Google Scholar 

  • Apgar, V., ed. 1970. Down’s Syndrome (Mongolism). Ann. N.Y. Acad. Sci. 171:303–688.

    Google Scholar 

  • Aymé, S., and Lippman-Hand, A. 1982. Maternal-age effect in aneuploidy: does altered embryonic selection play a role? Am. J. Hum. Genet. 34:558–565.

    PubMed  Google Scholar 

  • Baird, P. A., and Sadovnick, A. D. 1987. Life expectancy in Down syndrome. J Pediatr. 110:849–854.

    Article  PubMed  CAS  Google Scholar 

  • Baird, P. A., and Sadovnick, A. D. 1988a. Life expectancy in Down syndrome adults. Lancet 2:1354–1356.

    Article  CAS  Google Scholar 

  • Baird, P. A., and Sadovnick, A. D. 1988b. Maternal age-specific rates for Down syndrome: changes over time. Am. J. Med. Genet. 29:917–927.

    Article  CAS  Google Scholar 

  • Baird, P. A., Anderson, T. W., Newcombe, H. B., and Lowry, R. B. 1988. Genetic disorders in children and young adults: a population study. Am. J. Hum. Genet. 42:677–693.

    PubMed  CAS  Google Scholar 

  • Bell, J., Hilden, J., Bowling, F., Pearn, J., Brownlea, A., and Martin, N. 1986. The impact of prenatal diagnosis on the occurrence of chromosome abnormalities. Prenat. Diagn. 6:1–11.

    Article  PubMed  CAS  Google Scholar 

  • Bernheim, A., Chastang, C., de Heaulme, M., and de Grouchy, J. 1979. Excès de garcons dans la trisomie 21. Ann. Genet. 22:112–114.

    PubMed  CAS  Google Scholar 

  • Bleyer, A. 1932. The frequency of mongoloid imbecility: the question of race and the apparent influence of sex. Am. J. Dis. Child. 44:503–508.

    Google Scholar 

  • Bricarelli, F. D., Pierluigi, M., Perroni, L., Grasso, M., Arslanian, A., and Sacchi, N. 1988. High efficiency in the attribution of parental origin of non-disjunction in trisomy 21 by both cytogenetic and molecular polymorphisms. Hum. Genet. 79:124–127.

    Article  PubMed  CAS  Google Scholar 

  • Burgio, G. R., Fraccaro, M., Tiepolo, L., and Wolf, U., eds. 1981. Trisomy 21. Springer, Berlin.

    Google Scholar 

  • Byrne, J., and Warburton, D. 1987. Male excess among anatomically normal fetuses in spontaneous abortions. Am. J. Med. Genet. 26:605–611.

    Article  PubMed  CAS  Google Scholar 

  • Chitham, R. G., and MacIver, E. 1965. A cytogenetic and statistical survey of 105 cases of mongolism. Ann. Hum. Genet. 28:309–315.

    Article  PubMed  CAS  Google Scholar 

  • Church, A., and Peterson, F. 1924. Nervous and Mental Diseases, 9th ed. Saunders, Philadelphia.

    Google Scholar 

  • Colombo, B. 1957. On the sex ratio in man. Cold Spring Harbor Symp. Quant. Biol. 22:193–202.

    PubMed  CAS  Google Scholar 

  • de la Cruz, F., and Gerald, P. S., eds. 1981. Trisomy 21 (Down Syndrome), Research Perspectives. University Park Press, Baltimore.

    Google Scholar 

  • Down, J. L. H. 1866. Observations on an ethnic classification of idiots. London Hosp. Rep. 3:259–262.

    Google Scholar 

  • Drew, J. S., London, T. W., Lustbader, E. D., Hesser, J. E., and Blumberg, B. S. 1978. Hepatitis B virus and sex ratio of offspring. Science 201:687–692.

    Article  PubMed  CAS  Google Scholar 

  • Edmonds, L. D., Layde, P. M., James, L. M., Flynt, J. W., Erickson, J. D., and Oakley, G. P. 1981. Congenital malformations surveillance: two American systems. Int. J. Epidemiol. 10:247–252.

    Article  PubMed  CAS  Google Scholar 

  • Edwards, J. H. 1988. The importance of genetic disease and the need for prevention. Philos. Trans. R. Soc. London Ser. B 319:211–227.

    Article  CAS  Google Scholar 

  • Erickson, J. D. 1976. The secondary sex ratio in the United States 1969–71: association with race, parental ages, birth order, paternal education and legitimacy. Ann. Hum. Genet. 40:205–212.

    Article  PubMed  CAS  Google Scholar 

  • Evans, J. A., Hunter, G. W., and Hamerton, J. L. 1978. Down syndrome and recent demographic trends in Manitoba. J. Med. Genet. 15:43–47.

    Article  PubMed  CAS  Google Scholar 

  • Farag, T. I., Al-Awadi, A. A., Al-Othman, S. A., Sundareshan, T. S., Krishna Murthy, D. S., Usha, R., Mady, S. A., and Uma, R. 1988. Down syndrome and trisomy 18 in the Bedouins. Am. J. Med. Genet. 29:943–944.

    Article  PubMed  CAS  Google Scholar 

  • Ferguson-Smith, M. A. 1983. Prenatal chromosome analysis and its impact on the birth incidence of chromosomal disorders. Br. Med. Bull. 39:355–364.

    PubMed  CAS  Google Scholar 

  • Ferguson-Smith, M. A., May, H. M., Vince, J. D., Robinson, H. P., Rawlinson, H. A., Tait, H. A., Gibson, A. A. M., and Ratcliffe, J. G. 1978. Avoidance of anencephalic and spina bifida births by maternal serum alpha-fetoprotein screening. Lancet 1:1330–1333.

    Article  PubMed  CAS  Google Scholar 

  • Forssman, H., and Akesson, H. O. 1965. Mortality in patients with Down’s syndrome. J. Ment. Defic. Res. 9:146–149.

    PubMed  CAS  Google Scholar 

  • Gallagher, R. P., and Lowry, R. B. 1975. Longevity in Down’s syndrome in British Columbia. J. Ment. Defic. Res. 19:157–163.

    PubMed  CAS  Google Scholar 

  • Gentry, J. T., Parkhurst, E., and Bulin, G. V., Jr. 1959. An epidemiological study of congenital malformations in New York State. Am. J. Public Health 49:497–513.

    Article  CAS  Google Scholar 

  • Goodwin, B. A., and Huether, C. A. 1987. Revised estimates and projections of Down syndrome births in the United States, and the effects of prenatal diagnosis utilization, 1970–2002. Prenat. Diagn. 7:261–271.

    Article  PubMed  CAS  Google Scholar 

  • Guerrero, R. 1974. Association of the type and time of insemination within the menstrual cycle with the sex ratio at birth. N. Engl. J. Med. 291:1056–1059.

    Article  PubMed  CAS  Google Scholar 

  • Gustavson, K. H., Hagberg, B., Hagberg, G., and Sars, K. 1977a. Severe mental retardation in a Swedish county: I. Epidemiology, gestational age, birth weight and associated CNS handicaps in children born, 1959–70. Acta Paediatr. Scand. 66:373–379.

    Article  CAS  Google Scholar 

  • Gustavson, K. H., Holmgren, G., Jonsell, R., and Son Blomquist, H. K. 1977b. Severe mental retardation in children in a northern Swedish county. J. Ment. Defic. Res. 21:161–180.

    CAS  Google Scholar 

  • Hafez, J., El-Tahan, M., Zedan, M., and Eisa, M. 1984. Demographic trends of Down’s syndrome in Egypt. Hum. Biol. 56:703–712.

    PubMed  CAS  Google Scholar 

  • Hamers, A., Vaes-Peeters, G., Jongbloed, R., Millington-Ward, A., Meijer, H., de Die-Smulders, C., and Geraedts, J. 1987. On the origin of recurrent trisomy 21: determination using chromosomal and DNA polymorphisms. Clin. Genet. 32:409–413.

    Article  PubMed  CAS  Google Scholar 

  • Hansen, H. 1978. Decline of Down’s syndrome after abortion reform in New York State. Am. J. Ment. Defic. 83:185–188.

    PubMed  CAS  Google Scholar 

  • Harlap, S. 1979. Gender of infants conceived in different days of menstrual cycle. N. Engl. J. Med. 300:1445–1448.

    Article  PubMed  CAS  Google Scholar 

  • Hassold, T. J. 1986. Chromosome abnormalities in human reproductive wastage. Trends Genet. 2:105–110.

    Article  Google Scholar 

  • Hassold, T., and Jacobs, P. A. 1984. Trisomy in man. Annu. Rev. Genet. 18:69–97.

    Article  PubMed  CAS  Google Scholar 

  • Hassold, T, Chen, N., Funkhouser, J., Jooss, T., Manuel, B., Matsuura, J., Matsuyama, A., Wilson, C., Yamane, J. A., and Jacobs, P. A. 1980. A cytogenetic study of 1000 spontaneous abortions. Ann. Hum. Genet. 44:151 – 178.

    Article  PubMed  CAS  Google Scholar 

  • Hassold, T., Quillen, D. S., and Yamane, J. A. 1983. Sex ratio in spontaneous abortions. Ann. Hum. Genet. 47:39–47.

    Article  PubMed  CAS  Google Scholar 

  • Hassold, T., Chiu, D., and Yamane, J. A. 1984. Parental origin of autosomal trisomies. Ann. Hum. Genet. 48:129–144.

    Article  PubMed  CAS  Google Scholar 

  • Hassold, T., Jacobs, P. A., Leppert, M., and Sheldon, M. 1987. Cytogenetic and molecular studies of trisomy 13. J. Med. Genet. 24:725–732.

    Article  PubMed  CAS  Google Scholar 

  • Honoré, L. 1988. Male excess among anatomically normal fetuses in spontaneous abortions. Am. J. Med. Genet. 30:843–844.

    Article  PubMed  Google Scholar 

  • Hook, E. B. 1981a. Down syndrome: frequency in human population 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. 3–67.

    Google Scholar 

  • Hook, E. B. 1981b. Unbalanced robertsonian translocations associated with Down’s syndrome or Patau’s syndrome: chromosome subtype, proportion inherited, mutation rates, and sex ratio. Hum. Genet. 59:235–239.

    Article  CAS  Google Scholar 

  • Hook, E. B. 1983a. Perspectives in mutation epidemiology: 3. Contribution of chromosome abnormalities to human morbidity and mortality and some comments upon

    Google Scholar 

  • surveillance of chromosome mutation rates. Mutat. Res. 114:389–423.

    Google Scholar 

  • Hook, E. B. 1983b. Chromosome abnormalities and spontaneous fetal death following amniocentesis: further data and associations with maternal age. Am. J. Hum. Genet. 35:110–116.

    CAS  Google Scholar 

  • Huang, S. W., Emanuel, I., Lo, J., Liao, S. K., and Hsu, C. C. 1967. A cytogenetic study of 77 Chinese children with Down’s syndrome. J. Ment. Defic. Res. 11:147–152.

    PubMed  CAS  Google Scholar 

  • Huether, C. A. 1983. Projection of Down’s syndrome in the United States 1979–2000, and the potential effects of prenatal diagnosis. Am. J. Public Health 73:1186–1189.

    Article  PubMed  CAS  Google Scholar 

  • Huether, C. A., and Gummere, G. R. 1982. Influence of demographic factors on annual Down’s syndrome births in Ohio, 1970–1979, and the United States, 1920–1979. Am. J. Epidemiol. 115:846–860.

    PubMed  CAS  Google Scholar 

  • Hug, E. 1951. Das Geschlechtsverhaltnis beim mongolismus. Ann. Paediatr. 177:31–54.

    PubMed  CAS  Google Scholar 

  • Hytten, F. E. 1982. Commentary: boys and girls. Br. J. Obstet. Gynaecol. 89:97–99.

    Article  PubMed  CAS  Google Scholar 

  • ICPEMC, 1986. International commission for protection against environmental mutagens and carcinogens. ICPEMC meeting report no. 3. Is the incidence of Down syndrome increasing? Mutat. Res. 175:263–266.

    Article  Google Scholar 

  • Iselius, L., and Lindsten, J. 1986. Changes in the incidence of Down syndrome in Sweden during 1968–1982. Hum. Genet. 72:133–139.

    Article  PubMed  CAS  Google Scholar 

  • Jacobs, P. A., and Hassold, T.J. 1987. Chromosome abnormalities: origin and etiology in abortions and livebirths, in: Human Genetics, Proceedings of the 7th International Congress, Berlin, 1986, F. Vogel and K. Sperling, eds. Springer, Berlin, pp. 233–244.

    Google Scholar 

  • Janerich, D. T, and Bracken, M. B. 1986. Epidemiology of trisomy 21: a review and theoretical analysis. J Chron. Dis. 39:1079–1093.

    Article  PubMed  CAS  Google Scholar 

  • Jenkins, R. L. 1933. Etiology of mongolism. Am. J. Dis. Child. 45:506–519.

    Google Scholar 

  • Jervis, G. A. 1942. Recent progress in the study of mental deficiency mongolism: a review of the literature of the last decade. Am. J. Ment. Defic. 46:467–481.

    Google Scholar 

  • Kang, Y. S., and Cho, W. K. 1962. The sex ratio at birth and other attributes of the newborn from maternity hospitals in Korea. Hum. Biol. 34:38–48.

    PubMed  CAS  Google Scholar 

  • Kashgarian, M., and Rendtorff, R. C. 1969. Incidence of Down’s syndrome in American Negroes. J Pediatr. 74:468–471.

    Article  PubMed  CAS  Google Scholar 

  • Kellokumpu-Lehtinen, P., and Pelliniemi, L. 1984. Sex ratio of human conceptuses. Obstet. Gynecol. 64:220–222.

    PubMed  CAS  Google Scholar 

  • Khoury, M., Erickson, J. D., and James, L. M. 1984. Paternal effects on the human sex ratio at birth: evidence from interracial crosses. Am. J. Hum. Genet. 36:1103–1111.

    PubMed  CAS  Google Scholar 

  • Kiely, M. 1987. The prevalence of mental retardation. Epidemiol. Rev. 9:194–218.

    PubMed  CAS  Google Scholar 

  • Koulischer, L., and Gillerot, Y. 1980. Down’s syndrome in Wallonia (south Belgium), 1971 –1978: cytogenetics and incidence. Hum. Genet. 54:243–250.

    Article  PubMed  CAS  Google Scholar 

  • Krivchenia, E. 1987. Investigation of differences in Down syndrome incidences between metropolitan Atlanta and southwest Ohio, 1970–1985. Masters thesis, University of Cincinnati.

    Google Scholar 

  • Kuěcëra, J. 1982. Sekundarni prevence Downova syndromu v CSR 1975–1980. Cesk. Pediatr. 37:404–408.

    Google Scholar 

  • Kuroki, Y., Yamamoto, Y., Matsui, I., and Kurita, T. 1977. Down syndrome and maternal age in Japan, 1950–1973. Clin. Genet. 12:43–46.

    Article  PubMed  CAS  Google Scholar 

  • Largey, G. P., and Largey, K. A. 1971. Down’s syndrome: sex difference in relation to maternal age. Lancet 1:1242.

    Article  PubMed  CAS  Google Scholar 

  • Lejeune, J., and Prieur, M. 1979. Contraceptifs oraux et trisomie 21: étude rétrospective de sept cent trente cas. Ann. Genet. 22:61–66.

    PubMed  CAS  Google Scholar 

  • Lilienfeld, A. M. 1969. Epidemiology of Mongolism. Johns Hopkins Press, Baltimore.

    Google Scholar 

  • Lindsjo, A. 1974. Down’s syndrome in Sweden: an epidemiological study of a three-year material. Acta Paediatr. Scand. 63:571–576.

    Article  PubMed  CAS  Google Scholar 

  • Lindsten, J., Marsk, L., Berglund, K., Iselius, L., Ryman, N., Anneren, G., Kjessler, B., Mitelman, F., Nordenson, L, Wahlstrom, J., and Vejlens, L. 1981. Incidence of Down’s syndrome in Sweden during the years 1968–1977, in: Trisomy 21, G. R. Burgio, M. Fraccaro, L. Tiepolo, and U. Wolf, eds. Springer, Berlin, pp. 195–210.

    Google Scholar 

  • Lowry, R. B., Jones, D. C., Renwick, D. H. G., and Trimble, B. K. 1976. Down syndrome in British Columbia, 1952–73: incidence and mean maternal age. Teratology 14:29–34.

    Article  PubMed  CAS  Google Scholar 

  • Luthy, D. A., Emanuel, I., Hoehn, H., Hall, J., and Powers, E. K. 1980. Prenatal genetic diagnosis and elective abortion in women over 35: utilization and relative impact on the birth prevalence of Down syndrome in Washington State. Am. J. Med. Genet. 7:375–381.

    Article  PubMed  CAS  Google Scholar 

  • Mikkelsen, M. 1970. A Danish survey of patients with Down’s syndrome born to young mothers. Ann. N.Y. Acad. Sci. 171:370–378.

    Article  Google Scholar 

  • Mikkelsen, M. 1981. Epidemiology of trisomy 21: population, peri- and antenatal data, in: Trisomy 21, G. R. Burgio, M. Fraccaro, L. Tiepolo, and U. Wolf, eds. Springer, Berlin, pp. 211–226.

    Google Scholar 

  • Mikkelsen, M. 1982. Parental origin of the extra chromosome in Down’s syndrome. J. Merit. Defic. Res. 26:143–151.

    CAS  Google Scholar 

  • Mikkelsen, M. 1985. Down anomaly: new research aspects of an old well known syndrome. in: Progress in Clinical and Biological Research, Volume 177, K. Berg, ed. Liss, New York, pp. 293–307.

    Google Scholar 

  • Mikkelsen, M. 1988. The incidence of Down’s syndrome and progress towards its reduction. Philos. Trans. R. Soc. London Ser. B 319:315–324.

    Article  CAS  Google Scholar 

  • Mikkelsen, M., and Aymé, S. 1987. Chromosomal findings in chorionic villi: a collaborative study, in: Human Genetics, Proceedings of the 7th International Congress, Berlin, 1986, F. Vogel and K. Sperling, eds. Springer, Berlin, pp. 597–606.

    Google Scholar 

  • Mikkelsen, M., Fischer, G., Stene, J., Stene, E., and Petersen, E. 1976. Incidence study of Down’s syndrome in Copenhagen, 1960–1971: with chromosome investigation. Ann. Hum. Genet. 40:177–182.

    Article  PubMed  CAS  Google Scholar 

  • Mikkelsen, M., Poulsen, H., Grinsted, J., and Lange, A. 1980. Non-disjunction in trisomy 21: study of chromosomal heteromorphisms in 110 families. Ann. Hum. Genet. 44:17–28.

    Article  PubMed  CAS  Google Scholar 

  • Mikkelsen, M., Fischer, G., Hansen, J., Pilgaard, B., and Nielsen, J. 1983. The impact of legal termination of pregnancy and prenatal diagnosis on the birth prevalence of Down syndrome in Denmark. Ann. Hum. Genet. 47:123–132.

    Article  PubMed  CAS  Google Scholar 

  • Mulcahy, M. 1983. The effect of prenatal diagnosis on the incidence of Down syndrome in western Australia. Aust. N.Z.J. Obstet. Gynaecol. 23:197.

    Article  PubMed  CAS  Google Scholar 

  • Mulcahy, M., and Reynolds, A. 1985. Demographic factors and the incidence of Down’s syndrome in Ireland. J. Ment. Defic. Res. 29:113–123.

    PubMed  Google Scholar 

  • Murthy, S. K., Murthy, K., Shah, V. C., and Desai, A. B. 1987. Down syndrome in Ahmedabad: karyotype analysis in 60 cases. Indian J. Pediatr. 54:723–727.

    Article  PubMed  CAS  Google Scholar 

  • Nielsen, J., Jacobsen, P., Mikkelsen, M., Niebuhr, E., and Sorensen, K. 1981. Sex ratio in Down syndrome. Ann. Genet. 24:212–215.

    PubMed  CAS  Google Scholar 

  • Oster, J. 1953. Mongolism. Danish Science Press, Copenhagen.

    Google Scholar 

  • Owens, J. R., Harris, F., Walker, S., McAllister, E., and West, L. 1983. The incidence of Down’s syndrome over a 19-year period with special reference to maternal age. J. Med. Genet. 20:90–93.

    Article  PubMed  CAS  Google Scholar 

  • Penrose, L. S., and Smith, G. F. 1966. Down’s Anomaly. Little, Brown, Boston.

    Google Scholar 

  • Perry, T. B. 1971. Down’s syndrome: sex difference in relation to maternal age. Lancet 2:253.

    Google Scholar 

  • Pilgaard, B., and Mikkelsen, M. 1985. Fald i incidenden af Down’s syndrom i Danmark 1980–1982. Ugeskr. Laeg. 147:243–245.

    PubMed  CAS  Google Scholar 

  • Priest, J. H., Fernhoff, P. M., Elsas, L. J., and Huether, C. A. 1988. Prenatal diagnosis in metropolitan Atlanta and the impact on autosomal trisomies. Am. J. Obstet. Gynecol. 159:1306–1307.

    PubMed  CAS  Google Scholar 

  • Pueschel, S. M., and Rynders, J. E., eds. 1982. Down Syndrome: Advances in Biomedicine and the Behavioral Sciences. Ware Press, Cambridge.

    Google Scholar 

  • Pueschel, S. M., Tingey, C., Rynders, J. E., Crocker, A. C., and Crutcher, D. M., eds. 1987. New Perspectives on Down Syndrome. Brooks, Baltimore.

    Google Scholar 

  • Pulliam, L. H., and Huether, C. A. 1986. Translocation Down syndrome in Ohio 1970–1981: epidemiologic and cytogenetic factors and mutation rate estimates. Am. J. Hum. Genet. 39:361–370.

    PubMed  CAS  Google Scholar 

  • Qazi, Q. H., and Lanman, J. T. 1971. Down’s syndrome: sex difference in relation to maternal age. Lancet 2:264.

    Google Scholar 

  • Ros, Y., Hayez-Delatte, F., and van de Poel, H. 1971. Down’s syndrome: sex difference in relation to maternal age. Lancet 2:264.

    Google Scholar 

  • Rosanoff, A. J., and Handy, L. M. 1934. Etiology of mongolism: with special reference to its occurence in twins. Am. J. Dis. Child. 48:764–779.

    Google Scholar 

  • Rudd, N. L., Dimnik, L. S., Greentree, C., Mendes-Crabb, K., and Hoar, D. I. 1988. The use of DNA probes to establish parental origin in Down syndrome. Hum. Genet. 78:175–178.

    Article  PubMed  CAS  Google Scholar 

  • Sacchi, N., Gusella, J. F., Perroni, L., Bricarelli, F. D., and Papas, T. S. 1988. Lack of evidence for association of meiotic nondisjunction with particular DNS haplotypes on chromosome 21. Proc. Natl. Acad. Sci. USA 85:4794–4798.

    Article  PubMed  CAS  Google Scholar 

  • Sharov, T 1985. High-risk population for Down syndrome: orthodox Jews in Jerusalem. Am. J. Ment. Defic. 89:559–561.

    Google Scholar 

  • Slavin, R., Kameda, N., and Hamilton, H. 1967. A cytogenetic study of Down syndrome in Hiroshima and Nagasaki. Jpn. J. Hum. Genet. 12:17–28.

    Google Scholar 

  • Smith, G. F., and Berg, J. M. 1976. Down’s Anomaly, 2nd ed. Churchill/Livingston, Edinburgh.

    Google Scholar 

  • Smith, R. G., Gardner, R. W., Steinhoff, P., Chung, C. S., and Palmore, J. A. 1980. The effect of induced abortion on the incidence of Down’s syndrome in Hawaii. Fam. Plann. Perspect. 12:201–205.

    Article  PubMed  CAS  Google Scholar 

  • Spencer, D. A. 1971. Down’s syndrome: sex difference in relation to maternal age. Lancet 1:1356.

    Article  PubMed  CAS  Google Scholar 

  • Stein, Z., Susser, M., Warburton, D., Wittes, J., and Kline, J. 1973. Spontaneous abortion as a screening device: the effect of fetal survival on the incidence of birth defects. Am. J. Epidemiol. 102:275–290.

    Google Scholar 

  • Stein, Z., Stein, W., and Susser, M. 1986. Attrition of trisomies as a maternal screening device: an explanation of the association trisomy 21 with maternal age. Lancet 1:944–946.

    Article  PubMed  CAS  Google Scholar 

  • Stewart, G. D., Harris, P., Gait, J., and Ferguson-Smith, M. A. 1985. Cloned DNA probes regionally mapped to human chromosome 21 and their use in determining the origin of nondisjunction. Nucleic Acid Res. 3:4125–4132.

    Article  Google Scholar 

  • Stewart, G. D., Hassold, T. J., Berg, A., Watkins, P., Tanzi, R., and Kurnit, D. M. 1988. Trisomy 21 (Down syndrome): studying nondisjunction and meiotic recombination by using cytogenetic and molecular polymorphisms that span chromosome 21. Am. J. Hum. Genet. 42:227–236.

    PubMed  CAS  Google Scholar 

  • Sutherland, G. R., Clisby, S. R., Bloor, G., and Carter, R. F. 1979. Down’s syndrome in South Australia. Med. J. Aust. 2:58–61.

    PubMed  CAS  Google Scholar 

  • Tanaka, R. 1969. Incidence and distribution of Down’s syndrome in Iwate district, Japan. Saishin Igaku 24:318–321.

    Google Scholar 

  • Teitelbaum, M. S., Mantel, N., and Stark, C. 1971. Limited dependence of the sex ratio on birth order and paternal ages. Am. J. Hum. Genet. 23:271–280.

    PubMed  CAS  Google Scholar 

  • Tonomura, A., Oishi, H., Matsunaga, E., and Kurita, T. 1966. Down’s syndrome: a cytogenetic and statistical survey of 127 Japanese patients. Jpn. J. Hum. Genet. 11:1 – 16.

    CAS  Google Scholar 

  • Uchida, I. A. 1970. Epidemiology of mongolism: the Manitoba study. Ann. N.Y. Acad. Sci. 171:361–369.

    Article  Google Scholar 

  • Verma, R. S., and Huq, A. 1987. Sex ratio of children with trisomy 21 or Down syndrome. Cytobios 51:145–148.

    PubMed  CAS  Google Scholar 

  • Visaria, R M. 1967. Sex ratio at birth in territories with a relatively complete registration. Eugen. Q. 14:132–142.

    PubMed  CAS  Google Scholar 

  • Wahrman, J., and Fried, K. 1970. The Jerusalem prospective newborn survey of mongolism. Ann. N.Y. Acad. Sci. 171:341–360.

    Article  Google Scholar 

  • Wald, N. J., Cuckle, H. S., Densem, J. W., Nanchahal, K., Royston, P., Chard, T., Haddow, J. E., Knight, G. J., Palomaki, G. E., and Canick, J. A. 1988. Maternal serum screening for Down’s syndrome in early pregnancy. Br. Med. J. 297:883–887.

    Article  CAS  Google Scholar 

  • Walker, S., and Howard, P. J. 1986. Cytogenetic prenatal diagnosis and its relative effectiveness in the Mersey region and north Wales. Prenat. Diagn. 6:13–23.

    Article  PubMed  CAS  Google Scholar 

  • Warkany, J. 1978. Terathanasia. Teratology 17:353–357.

    Article  PubMed  CAS  Google Scholar 

  • Warkany, J. 1983. Teratology: spectrum of science, in: Issues and Reviews in Teratology. Volume 1, H. Kalter, ed. Plenum Press, New York, pp. 19–31.

    Google Scholar 

  • Warren, A. C., Chakravarti, A., Wong, C., Slaugenhaupt, S. A., Halloran, S. L., Watkins, P. C., Metaxotou, C., and Antonarakis, S. 1987. Evidence for reduced recombination on the nondisjoined chromosomes 21 in Down syndrome. Science 237:652–654.

    Article  PubMed  CAS  Google Scholar 

  • Zarfas, D., and Wolf, L. 1979. Maternal age patterns and the incidence of Down’s syndrome. Am. J. Ment. Defic. 83:353–359.

    PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Biological Sciences, University of Cincinnati, Cincinnati, Ohio, 45221-0006, USA

    Carl A. Huether

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  1. Carl A. Huether
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  1. Children’s Hospital Research Foundation and Department of Pediatrics, University of Cincinnati College of Medicine, Cininnati, Ohio, USA

    Harold Kalter

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© 1990 Plenum Press, New York

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Huether, C.A. (1990). Epidemiologic Aspects of Down Syndrome. In: Kalter, H. (eds) Issues and Reviews in Teratology. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-0521-7_7

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  • DOI: https://doi.org/10.1007/978-1-4613-0521-7_7

  • Publisher Name: Springer, Boston, MA

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