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, Cristina Templado, Yolanda Sánchez-Blanque, Osvaldo Rajmil, Carme Nogués

Research output: Contribution to journalArticleResearchpeer-review

16 Citations (Scopus)

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. © The Author 2005. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved.
Original languageEnglish
Pages (from-to)524-528
JournalHuman Reproduction
Volume21
DOIs
Publication statusPublished - 1 Jan 2006

Keywords

  • FISH analysis
  • Klinefelter syndrome
  • Parental origin
  • Paternal age
  • Sperm aneuploidy

Fingerprint Dive into the research topics of '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'. Together they form a unique fingerprint.

Cite this