Summary
The recent discovery that the extra chromosome in about 30% of cases of 47, trisomy 21 is of paternal origin has revived interest in the possibility of paternal age as a risk factor for a Down syndrome birth, independent of maternal age. Parental age distribution for 611 Down's syndrome 47,+21 cases was studied. The mean paternal age was 0.16 year greater than in the entire population of live births after controlling for maternal age. There was no evidence for a significant paternal age effect at the 0.05 level. For 242 of these Down's syndrome cases, control subjects were selected by rigidly matching in a systematic manner. Paternal age was the variable studied, with maternal age and time and place of birth controlled. There was no statistically significant association between paternal age and Down's syndrome. After adjustment for maternal age, these two studies were not consistent with an increase of paternal age in Down's syndrome.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Ayme S, Lippman-Hand A (1982) Maternal age effect in aneuploidy: Does altered embryonic selection play a role? Am J Hum Genet 34:558–565
Cohen BH, Lilienfeld AM, Kramer S, Hyman LC (1977) Parental factors in Down's syndrome-results of the second Baltimore case-control study. In: Hook EB, Porter IH (eds) Population cytogenetics: Studies in humans. Academic Press, New York, pp 301–352
Erickson JD (1978) Down syndrome, paternal age, maternal age and birth order. Ann Hum Genet 41:289–298
Erickson JD (1979) Paternal age and Down syndrome. Am J Hum Genet 31:489–497
Erickson JD, Bjerkedal T (1981) Down syndrome associated with father's age in Norway. J Med Genet 18:22–28
Hansson A, Mikkelsen M (1978) The origin of the extra chromosome 21 in Down syndrome. Cytogenet Cell Genet 20:194–203
Hook EB, Cross PK, Lamson SH, Regal RR, Baird PA, Uh SH (1981) Paternal age and Down syndrome in British Columbia. Am J Hum Genet 33:123–128
Hook EB, Cross PK (1982) Interpretation of recent data pertinent to genetic counseling for Down syndrome: maternal age specific rates, temporal trends, adjustments for paternal age, recurrence risks, risks after other cytogenetic abnormalities, recurrence risk after remarriage. In: Willey AM, Carter TP, Kelly S, Porter IH (eds) Clinical genetics: Problems in diagnosis and counseling. Academic Press, New York, pp 119–145
Lamson SH, Cross PK, Hook EB, Regal R (1980) On the inadequacy of quinquennial data for analyzing the paternal age effect on Down's syndrome rates. Hum Genet 55:49–51
Mantel N, Stark CR (1966) Parental age in Down's syndrome. Am J Ment Defic 71:1025
Matsunaga E, Tonomura A, Oishi H, Kikuchi Y (1978) Reexamination of paternal age effect in Down's syndrome. Hum Genet 40:259–268
Penrose LS (1933) The relative effects of paternal and maternal age in mongolism. J Genet 27:219–224
Penrose LS (1957) Parental age in achondroplasia and mongolism. Am J Hum Genet 9:167–169
Regal RR, Cross PK, Lamson SH, Hook EB (1980) 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 112:650–655
Sigler AT, Lilienfeld AM, Cohen BH, Westlake JE (1965) Parental age in Down's syndrome (mongolism). J Pediatr 67:631–642
Sigler AT, Cohen BH, Lilienfeld AM, Westlake JE, Hetznecker WH (1967) Reproductive and marital experience of parents with children with Down's syndrome (mongolism). J Pediatr 70:608–614
Stene J, Fischer G, Stene E, Mikkelsen M, Petersen E (1977) Paternal age effect in Down's syndrome. Ann Hum Genet 40:299–306
Stene J, Stene E (1977) 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
Stene J, Stene E (1978) On data and methods in investigations on parental age effects. Comments on a paper by JD Erickson. Ann Hum Genet 41:465–468
Stene J, Stene E, Stengel-Rutkowski S, Murken JD (1981) Paternal age and Down's syndrome. Data from prenatal diagnosis (DFG). Hum Genet 59:119–124
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Roth, M.P., Feingold, J., Baumgarten, A. et al. Reexamination of paternal age effect in Down's syndrome. Hum Genet 63, 149–152 (1983). https://doi.org/10.1007/BF00291534
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00291534