Article
Xq-Yq interchange resulting in supernormal X-linked gene expression in severely retarded males with 46,XYq- karyotype.
Nature genetics - 1 Nov 1994
Lahn B T, Ma N, Breg W R, Stratton R, Surti U, Page D C
Abstract excerpt
The critical importance of dosage compensation is underscored by a novel human syndrome ("XYXq syndrome") in which we have detected partial X disomy, demonstrated supernormal gene expression resulting from the absence of X inactivation, and correlated this overexpression with its phenotypic consequences. Studies of three unrelated boys with 46,XYq- karyotypes and anomalous phenotypes (severe mental retardation,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.