Abstract
The purpose of this study was to analyze Down syndrome (DS) births during 1970-1980 in the State of Ohio for a paternal-age effect independent of maternal age. Birth certificates and chromosome analysis records were used to ascertain 1,244 white DS births, which by capture-recapture methodology were estimated to comprise two-thirds of all white DS births in Ohio for this period. The control data consisted of 1,667,210 white live births in Ohio during the same period. One method of statistical analysis was a case-control comparison, which for each single-year maternal age compares the mean paternal age for controls with each observed DS paternal age. No statistically significant paternal-age effect was found in nine of the 11 years. For two of the years, and for all years combined, the DS fathers were significantly younger than the fathers of controls. When the data were subdivided according to ascertainment, one subpopulation--those DS individuals obtained from birth certificates alone--also showed a statistically significant negative paternal-age effect. The Mantel-Haenszel test was also applied to these data. Assuming no paternal-age effect, a lower rate of DS births than expected was found at paternal ages greater than or equal to 40, but not at greater than or equal to 45, greater than or equal to 50, or greater than or equal to 55. These same methods were used to test for a maternal-age effect. In each of the 11 years and over all 11 years combined, a strong and statistically significant positive maternal-age effect was detected.
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Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Erickson J. D., Bjerkedal T. O. Down syndrome associated with father's age in Norway. J Med Genet. 1981 Feb;18(1):22–28. doi: 10.1136/jmg.18.1.22. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Erickson J. D. Down syndrome, paternal age, maternal age and birth order. Ann Hum Genet. 1978 Jan;41(3):289–298. doi: 10.1111/j.1469-1809.1978.tb01896.x. [DOI] [PubMed] [Google Scholar]
- Erickson J. D. Paternal age and Down syndrome. Am J Hum Genet. 1979 Jul;31(4):489–497. [PMC free article] [PubMed] [Google Scholar]
- Hook E. B., Cross P. K., Lamson S. H., Regal R. R., Baird P. A., Uh S. H. Paternal age and Down syndrome in British Columbia. Am J Hum Genet. 1981 Jan;33(1):123–128. [PMC free article] [PubMed] [Google Scholar]
- Huether C. A., Gummere G. R., Hook E. B., Dignan P. S., Volodkevich H., Barg M., Ludwig D. A., Lamson S. H. Down's syndrome: percentage reporting on birth certificates and single year maternal age risk rates for Ohio 1970-79: comparison with upstate New York data. Am J Public Health. 1981 Dec;71(12):1367–1372. doi: 10.2105/ajph.71.12.1367. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Huether C. A., Gummere G. R. Influence of demographic factors on annual Down's syndrome births in Ohio, 1970-1979, and the United States, 1920-1979. Am J Epidemiol. 1982 Jun;115(6):846–860. doi: 10.1093/oxfordjournals.aje.a113372. [DOI] [PubMed] [Google Scholar]
- Lamson S. H., Cross P. K., Hook E. B., Regal R. On the inadequacy of quinquennial data for analyzing the paternal age effect on Down's syndrome rates. Hum Genet. 1980;55(1):49–51. doi: 10.1007/BF00329126. [DOI] [PubMed] [Google Scholar]
- Matsunaga E., Tonomura A., Oishi H., Kikuchi Y. Reexamination of paternal age effect in Down's syndrome. Hum Genet. 1978 Feb 16;40(3):259–268. doi: 10.1007/BF00272186. [DOI] [PubMed] [Google Scholar]
- Mikkelsen M., Poulsen H., Grinsted J., Lange A. Non-disjunction in trisomy 21: study of chromosomal heteromorphisms in 110 families. Ann Hum Genet. 1980 Jul;44(Pt 1):17–28. doi: 10.1111/j.1469-1809.1980.tb00942.x. [DOI] [PubMed] [Google Scholar]
- Regal R. R., Cross P. K., Lamson S. H., Hook E. B. A search for evidence for a paternal age effect independent of a maternal age effect in birth certificate reports of Down's syndrome in New York state. Am J Epidemiol. 1980 Nov;112(5):650–655. doi: 10.1093/oxfordjournals.aje.a113037. [DOI] [PubMed] [Google Scholar]
- Roberts D. F., Callow M. H. Origin of the additional chromosome in Down's syndrome: a study of 20 families. J Med Genet. 1980 Oct;17(5):363–367. doi: 10.1136/jmg.17.5.363. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Stene J., Fischer G., Stene E., Mikkelsen M., Petersen E. Paternal age effect in Down's syndrome. Ann Hum Genet. 1977 Jan;40(3):299–306. doi: 10.1111/j.1469-1809.1977.tb00194.x. [DOI] [PubMed] [Google Scholar]
- Stene J., Stene E. On data and methods in investigations on parental-age effects. Comments on a paper by J. D. Erickson. Ann Hum Genet. 1978 May;41(4):465–468. doi: 10.1111/j.1469-1809.1978.tb00917.x. [DOI] [PubMed] [Google Scholar]
- Stene J., Stene E., Stengel-Rutkowski S., Murken J. D. Paternal age and Down's syndrome: data from prenatal diagnoses (DFG). Hum Genet. 1981;59(2):119–124. doi: 10.1007/BF00293059. [DOI] [PubMed] [Google Scholar]