Sperm aneuploidy in fathers of children with paternally and maternally inherited Klinefelter syndrome

• Published in: Human reproduction (Oxford) Vol. 17; no. 3; pp. 576 - 583
• Main Authors: Eskenazi, B., Wyrobek, A.J., Kidd, S.A., Lowe, X., Moore, D., Weisiger, K., Aylstock, M.
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 01.03.2002
• Subjects: Adult; Aneuploidy; Biological and medical sciences; Chromosome aberrations; Chromosomes, Human, Pair 21 - genetics; Fathers; fluorescence in-situ hybridization human; Humans; Klinefelter syndrome; Klinefelter Syndrome - genetics; Male; Medical genetics; Medical sciences; Middle Aged; Mothers; Paternal Age; Regression Analysis; sperm; Spermatozoa - physiology; X Chromosome - genetics; Y Chromosome - genetics; Klinefelter syndrome; aneuploidy; sperm; fluorescence in-situ hybridization human; Chromosomal aberration; Endocrinopathy; Human; Paternal age; Semen; Sex chromosome; Aneuploidy; Male; Sexual differentiation disorder; Supernumerary X chromosome; Hypogonadism; Malformation; Fluorescence in situ hybridization; Parental origin; Male genital diseases; Child
• ISSN: 0268-1161; 1460-2350
• DOI: 10.1093/humrep/17.3.576

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.