Human Reproduction, Vol. 17, No. 3, 576-583,
March 2002
© 2002 European Society of Human Reproduction and Embryology
Sperm aneuploidy in fathers of children with paternally and maternally inherited Klinefelter syndrome
1 School of Public Health, University of California, Berkeley, CA 94720, 2 Biology and Biotechnology Research Program, Lawrence Livermore National Laboratory, Livermore, CA 94551 and 3 Klinefelter Syndrome and Associates, Roseville, CA 95678, USA
BACKGROUND: It is unclear whether frequency of sperm aneuploidy is associated with risk of fathering children with trisomy. METHODS: We recruited 36 families with a boy with Klinefelter syndrome (KS), interviewed the fathers about their exposures and medical history, received a semen sample from each father, and collected blood samples from the mother, father and child. We applied a multicolour fluorescent in-situ hybridization assay to compare the frequencies of sperm carrying XY aneuploidy and disomies X, Y and 21 in fathers of maternally and paternally inherited KS cases. RESULTS: Inheritance of the extra X chromosome was paternal in 10 and maternal in 26 families. Fathers of paternal KS cases produced higher frequencies of XY sperm (P = 0.02) than fathers of maternal KS cases. After controlling for age, the major confounding variable, the difference between the two groups was no longer significant (P 
0.2). Also, there were no significant differences between the parental origin groups for disomy X, Y or 21. CONCLUSIONS: Men who fathered a child with a Klinefelter syndrome produced higher frequencies of XY sperm aneuploidy, which is explained, in part, by both paternal age and parent of origin.
Key words: aneuploidy/fluorescence in-situ hybridization human/Klinefelter syndrome/sperm
4 To whom correspondence should be addressed. E-mail: eskenazi{at}uclink4.berkeley.edu
* These authors are equally responsible for this work.
Submitted on March 26, 2001; resubmitted on August 13, 2001
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