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Hum. Reprod. Advance Access published online on September 30, 2005
Human Reproduction, 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
Received June 10, 2005
Revised August 31, 2005
Accepted September 1, 2005

Article

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 Arnedo 1, Cristina Templado 1, Yolanda Sánchez-Blanque 1, Osvaldo Rajmil 2, and Carme Nogués 1*

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

* To whom correspondence should be addressed.
Carme Nogués, E-mail: carme.nogues{at}uab.es


  Abstract

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.

Keywords: FISH analysis/Klinefelter syndrome/parental origin/paternal age/sperm aneuploidy.
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