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Hum. Reprod. Advance Access originally published online on November 4, 2004
Human Reproduction 2005 20(2):462-468; doi:10.1093/humrep/deh598
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Human Reproduction vol. 20 no. 2 © European Society of Human Reproduction and Embryology 2004; all rights reserved

Mitotic and meiotic behaviour of a naturally transmitted ring Y chromosome: reproductive risk evaluation

Núria Arnedo, Carme Nogués, Mercè Bosch and Cristina Templado1

Departament de Biologia Cel.lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, 08193 Bellaterra, Barcelona, Spain

1 To whom correspondence should be addressed. Email: cristina.templado{at}uab.es

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.

Key words: aneuploidy/inherited ring/Klinefelter syndrome/ring Y chromosome/sperm


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N. Arnedo, C. Templado, Y. Sanchez-Blanque, O. Rajmil, and C. Nogues
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
Hum. Reprod., February 1, 2006; 21(2): 524 - 528.
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