Format

Send to

Choose Destination
See comment in PubMed Commons below
Am J Hum Genet. 1991 Aug;49(2):253-60.

XY chromosome nondisjunction in man is associated with diminished recombination in the pseudoautosomal region.

Author information

1
Department of Pediatrics, Emory University School of Medicine, Atlanta, GA 30322.

Abstract

To assess the possible association between aberrant recombination and XY chromosome nondisjunction, we compared pseudoautosomal region recombination rates in male meiosis resulting in 47,XXY offspring with those resulting in 46,XY and 46,XX offspring. Forty-one paternally derived 47,XXYs and their parents were tested at six polymorphic loci spanning the pseudoautosomal region. We were able to detect crossing-over in only six of 39 cases informative for the telomeric DXYS14/DXYS20 locus. Subsequently, we used the data to generate a genetic linkage map of the pseudoautosomal region and found it to be significantly shorter than the normal male map of the region. From these analyses we conclude that most paternally derived 47,XXYs result from meiosis in which the X and Y chromosomes did not recombine.

PMID:
1867189
PMCID:
PMC1683286
[Indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for PubMed Central
    Loading ...
    Support Center