Article
Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map.
American journal of medical genetics. Part A - 15 Aug 2007
Feenstra Ilse, Vissers Lisenka E L M, Orsel Mirjam, van Kessel Ad Geurts, Brunner Han G, Veltman Joris A, van Ravenswaaij-Arts Conny M A
Abstract excerpt
Partial deletions of the long arm of chromosome 18 lead to variable phenotypes. Common clinical features include a characteristic face, short stature, congenital aural atresia (CAA), abnormalities of the feet, and mental retardation (MR). The presence or absence of these clinical features may depend on the size and position of the deleted region. Conversely, it is also known that patients whose breakpoints are...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.