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Hum. Reprod. Advance Access originally published online on September 30, 2005
Human Reproduction 2006 21(2):524-528; doi:10.1093/humrep/dei321
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© The Author 2005. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Sperm aneuploidy in fathers of Klinefelter’s syndrome offspring assessed by multicolour fluorescent in situ hybridization using probes for chromosomes 6, 13, 18, 21, 22, X and Y

Núria Arnedo1, Cristina Templado1, Yolanda Sánchez-Blanque1, Osvaldo Rajmil2 and Carme Nogués1,3

1 Departament de Biologia Cel·lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, 08193 Bellaterra and 2 Servei d’Andrologia, Fundació Puigvert, 08025 Barcelona, Spain

3 To whom correspondence should be addressed at: Unitat de Biologia Cel·lular, Departament de Biologia Cel·lular, Fisiologia i Immunologia, Facultat de Ciències, Universitat Autònoma de Barcelona, 08193 Bellaterra, Barcelona, Spain. E-mail: carme.nogues{at}uab.es

BACKGROUND: It is still unclear if a recurrence risk would exist in fathers of an aneuploid offspring of paternal origin. We have studied disomy frequencies in spermatozoa from fathers having Klinefelter syndrome (KS) offspring or miscarriages. The effect of paternal age on sperm disomy percentages is also analysed. METHODS: Parental origin of 17 KS patients was carried out by amplification of X chromosome polymorphisms. Spermatozoa from their fathers were studied by multicolour fluorescent in situ hybridisation (FISH) using probes for chromosomes 6, 13, 18, 21, 22, X and Y. RESULTS: In 53% of KS cases studied the additional X chromosome was of paternal origin. The paternally transmitted KS group of fathers showed significantly higher frequencies for XY disomy sperm as compared to fathers of the maternal-origin group. A correlation between paternal age and XY disomy frequencies was only found in the paternally derived cases. In contrast, similar disomy frequencies for all autosomes analysed were found in both groups of fathers. CONCLUSIONS: XY disomy frequencies increase with advancing paternal age only in fathers with paternally inherited KS offspring.

Key words: FISH analysis/Klinefelter syndrome/parental origin/paternal age/sperm aneuploidy


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