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Springer Nature [academic journals on nature.com], European Journal of Human Genetics, 10(8), p. 805-808, 2000

DOI: 10.1038/sj.ejhg.5200531

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

Journal article published in 2000 by N. Simon Thomas, Andrew R. Collins ORCID, Terry J. Hassold, Patricia A. Jacobs
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.