Article
Case report: Y;6 translocation with deletion of 6p.
Clinical dysmorphology - 1 Apr 2005
Klein Ophir D, Backstrand Kendall, Cotter Philip D, Marco Elysa, Sherr Elliott, Slavotinek Anne
Abstract excerpt
Translocations between the Y chromosome and an autosome are rare. We report a phenotypic male with a translocation between the Y chromosome and chromosome 6p, leading to partial 6p monosomy and XX male syndrome. He is the second child to be reported with this karyotype. Phenotypic findings included growth retardation, severe developmental delay, a Dandy-Walker malformation, cardiac and urogenital abnormalities,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
