A reinvestigation of non-disjunction resulting in 47, XXY males of paternal origin

Thomas, N. Simon, Collins, Andrew R., Hassold, Terry J. and Jacobs, Patricia A. (2000) A reinvestigation of non-disjunction resulting in 47, XXY males of paternal origin. European Journal of Human Genetics, 8 (10), 805-808. (doi:10.1038/sj.ejhg.5200531).

Record type: Article

Abstract

We have used polymorphisms within the Xp/Yp pseudoautosomal region (PAR 1) to determine the frequency and location of recombination in 80 paternally derived 47, XXY males. Of 64 informative results, there were 10 single cross-overs, one double cross-over and 53 without a cross-over. Therefore 2/3 of 47, XXY males of paternal origin result from meiosis in which the X and Y chromosomes fail to recombine. This failure was not associated with the presence of an increase in recombination in the smaller Xq/Yq pseudoautosomal region (PAR 2) or with the presence of microdeletions within PAR 1.

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Accepted/In Press date: 6 June 2000

Published date: 3 October 2000

Additional Information: Funding Information: We are very grateful to Professor David Skuse for providing patient samples and to Professor Peter Scambler for helpful discussions and proposing the hypothesis of PAR 1 microdeletions. This work was funded by the Wellcome Trust.

Keywords: Microdeletion, PAR 1, PAR 2, Recombination, Sex-chromosome non-disjunction

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