title: A reinvestigation of non-disjunction resulting in 47, XXY males of paternal origin.
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.
authors.affiliation: Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK. wessex.genetics@dial.pipex.com
authors.forename: N S
authors.initials: NS
authors.lastname: Thomas
authors.forename: A R
authors.initials: AR
authors.lastname: Collins
authors.forename: T J
authors.initials: TJ
authors.lastname: Hassold
authors.forename: P A
authors.initials: PA
authors.lastname: Jacobs
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D004247:DNA / Q000032:analysis; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D009630:Nondisjunction, Genetic; D011995:Recombination, Genetic; D012729:Sex Chromosome Aberrations / Q000473:pathology*; D016615:Telomere; D014960:X Chromosome / Q000235:genetics* / Q000473:pathology; D014998:Y Chromosome / Q000235:genetics* / Q000473:pathology
chemical_list: D004247:DNA