Skip to main content
Log in

Reexamination of paternal age effect in Down's syndrome

  • Original Investigations
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

Paternal age distribution for 1279 cases of Down's syndrome born in 1952–1968 was compared with the corresponding distribution for the general population, corrected for the maternal age as well as for the year of birth of the patients. Although there was no difference in the mean paternal age, the two distributions differed significantly, largely due to the excess of fathers aged 55 years and over and to the deficit of those aged 40–44 years in the patients born to mothers aged 30 years and over. The overall pattern of the relative incidence of Down's syndrome with advancing paternal age, with maternal age controlled, seems consistent with the hypothesis proposed by Stene et al. (1977). It increased from 0.8 for fathers aged 20–24 years slowly up to 1.2 for those aged 45–49 years, though with an intermediate drop to 0.8 at the age of 40–44 years, and then sharply to 2.4 for those aged 55 years and over. This rising pattern of the relative incidence with paternal age was essentially the same for the patients born in 1952–1960 and for those born in 1961–1968, although the slope was less steep in the latter than in the former group.

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

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  • Beolchini, P. E., Bariatti, A. B., Morganti, G.: Genetic-statistical investigations on the sibs (families) of 432 mongoloid subjects (in Italian). Acta Genet. Med. Gemellol. (Roma) 11, 430–449 (1962)

    Google Scholar 

  • Matsunaga, E.: Parental age, live-birth order, and pregnancy-free interval in Down's syndrome in Japan. In: Mongolism, G. E. W. Wolstenholme, R. Porter, eds., pp. 6–22. London: Ciba Foundation Study Group No. 25, Churchill 1967

    Google Scholar 

  • Penrose, L. S.: The relative effects of paternal and maternal age in mongolism. J. Genet. 27, 219–224 (1933)

    Google Scholar 

  • Penrose, L. S.: Mongolism as a problem in human biology. In: The early conceptus, normal and abnormal, W. W. Park, ed., pp. 94–97. Dundee: University of St. Andrews 1965

    Google Scholar 

  • Penrose, L. S.: Discussion. In: Mongolism, G. E. W. Wolstenholme, R. Porter, eds., p. 19. London: Ciba Foundation Study Group No. 25, Churchill 1967

    Google Scholar 

  • Sigler, A. T., Lilienfeld, A. M., Cohen, B. H., Westlake, J. E.: Parental age in Down's syndrome (mongolism). J. Pediatr. 67, 631–642 (1965)

    Google Scholar 

  • Slavin, R. E., Kamada, N., Hamilton, H. B.: A cytogenetic study of Down's syndrome in Hiroshima and Nagasaki. Jap. J. Hum. Genet. 12, 17–28 (1967)

    Google Scholar 

  • Stene, J., Fischer, G., Stene, E., Mikkelsen, M., Petersen, E.: Paternal age effect in Down's syndrome. Ann. Hum. Genet. 46, 299–306 (1977)

    Google Scholar 

  • Stene, J., Stene, E.: Statistical methods for detecting a moderate paternal age effect on incidence of disorder when a maternal one is present. Ann. Hum. Genet. 40, 343–353 (1977)

    Google Scholar 

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

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Additional information

This paper is dedicated to Professor Heinrich Schade in honor of his 70th birthday

Rights and permissions

Reprints and permissions

About this article

Cite this article

Matsunaga, E., Tonomura, A., Oishi, H. et al. Reexamination of paternal age effect in Down's syndrome. Hum Genet 40, 259–268 (1978). https://doi.org/10.1007/BF00272186

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00272186

Keywords

Navigation