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Eur J Hum Genet. 2000 Oct;8(10):805-8.

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

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Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK.


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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