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

N S Thomas; A R Collins; T J Hassold; P A Jacobs

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

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

N S Thomas, A R Collins, T J Hassold and P A Jacobs

European journal of human genetics : EJHG, Vol.8(10), pp.805-808

10/2000

DOI: https://doi.org/10.1038/sj.ejhg.5200531

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https://hdl.handle.net/2376/105431

PMID: 11039584

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Abstract

Humans

Male

Telomere

Case-Control Studies

Y Chromosome - genetics

DNA - analysis

Recombination, Genetic

Gene Deletion

Adult

Female

Sex Chromosome Aberrations - pathology

X Chromosome - genetics

Microsatellite Repeats

X Chromosome - pathology

Nondisjunction, Genetic

Y Chromosome - pathology

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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Title: A reinvestigation of non-disjunction resulting in 47, XXY males of paternal origin
Creators: N S Thomas - Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK. wessex.genetics@dial.pipex.com
A R Collins
T J Hassold
P A Jacobs
Publication Details: European journal of human genetics : EJHG, Vol.8(10), pp.805-808
Academic Unit: Molecular Biosciences, School of
Publisher: England
Identifiers: 99900546758601842
Language: English
Resource Type: Journal article