Document Detail

Mitotic and meiotic behaviour of a naturally transmitted ring Y chromosome: reproductive risk evaluation.
MedLine Citation:
PMID:  15528264     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: The mitotic and meiotic behaviour of a transmitted ring Y [r(Y)] chromosome from a father to his Klinefelter syndrome (KS) son, and the mechanism of ring formation are analysed herein. To our knowledge, this is the first reported case of natural transmission of an r(Y). METHODS AND RESULTS: Amplification of X chromosome polymorphisms by PCR showed that the KS was of paternal origin. G-banding and fluorescence in situ hybridization (FISH) studies revealed a similar percentage of mosaicism in father and son by mitotic loss of r(Y). SRY gene and Y marker amplification by PCR, FISH with subtelomeric probes for Xp/Yp and Xq/Yq, and comparative genomic hybridization (CGH) analyses indicated the intactness of the Y chromosome from SRY to subtelomere Yq. FISH analysis of sperm from the father showed significantly higher frequencies (P<0.005) for diploidy and for 6, 13, 18, 21, 22, XX, XY disomies than those observed in control donors. CONCLUSIONS: An r(Y) with low material loss can be naturally transmitted, showing similar mitotic behaviour in the offspring. The presence of an r(Y) chromosome in germinal cells increased the risk of fathering offspring with numerical abnormalities, even for chromosomes not involved in the arrangement.
Núria Arnedo; Carme Nogués; Mercè Bosch; Cristina Templado
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2004-11-04
Journal Detail:
Title:  Human reproduction (Oxford, England)     Volume:  20     ISSN:  0268-1161     ISO Abbreviation:  Hum. Reprod.     Publication Date:  2005 Feb 
Date Detail:
Created Date:  2005-01-25     Completed Date:  2005-06-16     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8701199     Medline TA:  Hum Reprod     Country:  England    
Other Details:
Languages:  eng     Pagination:  462-8     Citation Subset:  IM    
Departament de Biologia Cel.lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, 08193 Bellaterra, Barcelona, Spain.
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MeSH Terms
Chromosomes, Human, Y / genetics*
In Situ Hybridization, Fluorescence
Klinefelter Syndrome / genetics*
Meiosis / genetics*
Mitosis / genetics*
Polymerase Chain Reaction
Ring Chromosomes*

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