Article
A 10.7 Mb interstitial deletion of 13q21 without phenotypic effect defines a further non-pathogenic euchromatic variant.
American journal of medical genetics. Part A - 15 Sept 2008
Roos Andreas, Elbracht Miriam, Baudis Michael, Senderek Jan, Schönherr Nadine, Eggermann Thomas, Schüler Herdit M
Abstract excerpt
Chromosome 13 deletions are associated with widely varying phenotypes but the clinical picture nearly almost includes mental and growth retardation, craniofacial dysmorphisms, and/or malformations. Several attempts have been made to link monosomy 13q intervals with specific clinical features, but a genotype-phenotype correlation could not be delineated. We report on a woman with a normal phenotype and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.