How to cite this article: Oliver TR, Bhise A, Feingold E, Tinker S, Masse N, Sherman SL. 2009. Investigation of factors associated with paternal nondisjunction of chromosome 21. Am J Med Genet Part A 149A:1685–1690.
Investigation of factors associated with paternal nondisjunction of chromosome 21†
Article first published online: 15 JUL 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 8, pages 1685–1690, August 2009
How to Cite
Oliver, T. R., Bhise, A., Feingold, E., Tinker, S., Masse, N. and Sherman, S. L. (2009), Investigation of factors associated with paternal nondisjunction of chromosome 21. Am. J. Med. Genet., 149A: 1685–1690. doi: 10.1002/ajmg.a.32942
- Issue published online: 23 JUL 2009
- Article first published online: 15 JUL 2009
- Manuscript Accepted: 10 APR 2009
- Manuscript Received: 25 NOV 2008
- paternal nondisjunction;
- altered recombination;
- sex ratio;
- Down syndrome;
Previous studies on relatively small samples of individuals with trisomy 21 caused by paternally derived errors have shown that: (1) advanced paternal age is not a risk factor for chromosome 21 nondisjunction (NDJ), (2) absence of recombination, but not the location of recombination is associated with paternal NDJ and (3) there is an excess of males among live-births with paternally derived trisomy 21. An excess of males is also observed among all individuals with trisomy 21. Using 128 families that had a child with trisomy 21 due to a paternally derived error, we examined: paternal age, recombination and the male/female sex ratio. We genotyped STRs along 21q to identify the origin of the error and the location of recombination on the paternal chromosome. Results showed that 32% of paternal meiotic errors occurred in meiosis I (MI) and 68% in meiosis II (MII). We confirmed the lack of a paternal age association with either type of error (mean paternal age for controls, MI, and MII errors: 31.3 ± 6.6, 32.2 ± 6.3, 30.6 ± 6.5, respectively). However, contrary to previous findings, we did not find altered patterns of recombination among paternal MI or MII errors. We found an increased male/female sex ratio among paternal (1.28, 95% CI: 0.68–1.91) and maternal (1.16, 95% CI: 1.02–1.33) meiotic errors. While the sex ratio among individuals with paternal errors was not statistically significant, these findings suggest that selection against female fetuses with trisomy 21 may contribute to the excess of males observed among all individuals with trisomy 21. © 2009 Wiley-Liss, Inc.