FISH studies of the sperm of fathers of paternally derived cases of trisomy 21: no evidence for an increase in aneuploidy |
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| Authors: | M Hixon Elise Millie L A Judis Stephanie Sherman Katherine Allran Lisa Taft Terry Hassold |
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| Institution: | (1) Department of Genetics and The Center for Human Genetics, Case Western Reserve University and University Hospitals of Cleveland, 10900 Euclid Ave., Cleveland OH 44106, USA e-mail: mlh7@po.cwru.edu, Tel.: +1-216-368-3433, Fax: +1-216-368-0491, US;(2) Department of Genetics, Emory University School of Medicine, Atlanta GA 30322, USA, US |
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| Abstract: | Paternal nondisjunction accounts for approximately 5% of cases of trisomy 21. To test the hypothesis that, in some such cases,
the fathers might be predisposed to meiotic nondisjunction, we utilized fluorescence in situ hybridization (FISH) to screen
for aneuploidy in sperm. We analyzed sperm samples from ten males with a trisomy 21 offspring of paternal origin. Among these
individuals, the overall frequency of disomy 21 was 0.15%, comparable to estimates of disomy 21 in the general male population.
Furthermore, none of the ten fathers of trisomy 21 individuals had significantly elevated levels of disomic sperm. Thus, our
results provide no evidence that the occurrence of a trisomy 21 conceptus of paternal origin imparts an increased risk of
trisomy in subsequent pregnancies.
Received: 9 September 1998 / Accepted: 30 September 1998 |
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