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

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