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.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Thomas, N., Collins, A., Hassold, T. et al. A reinvestigation of non-disjunction resulting in 47, XXY males of paternal origin. Eur J Hum Genet 8, 805–808 (2000). https://doi.org/10.1038/sj.ejhg.5200531
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1038/sj.ejhg.5200531
Keywords
This article is cited by
-
Sperm chromosomal abnormalities in infertile men with failed intracytoplasmic sperm injection (ICSI)
Middle East Fertility Society Journal (2023)
-
Meiotic spindle assembly checkpoint and aneuploidy in males versus females
Cellular and Molecular Life Sciences (2019)
-
Incidence of Y chromosome microdeletions in patients with Klinefelter syndrome
Journal of Endocrinological Investigation (2019)
-
Effects of increased paternal age on sperm quality, reproductive outcome and associated epigenetic risks to offspring
Reproductive Biology and Endocrinology (2015)
-
Is the prevalence of Klinefelter syndrome increasing?
European Journal of Human Genetics (2008)