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

Eur J Hum Genet. 2000 Oct;8(10):805-8. doi: 10.1038/sj.ejhg.5200531.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Case-Control Studies
  • DNA / analysis
  • Female
  • Gene Deletion
  • Humans
  • Male
  • Microsatellite Repeats
  • Nondisjunction, Genetic
  • Recombination, Genetic
  • Sex Chromosome Aberrations / pathology*
  • Telomere
  • X Chromosome / genetics*
  • X Chromosome / pathology
  • Y Chromosome / genetics*
  • Y Chromosome / pathology

Substances

  • DNA