Article
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
Human genetics - 1 Jan 2012
Ballif Blake C, Rosenfeld Jill A, Traylor Ryan, Theisen Aaron, Bader Patricia I, Ladda Roger L, Sell Susan L, Steinraths Michelle, Surti Urvashi, McGuire Marianne, Williams Shelley, Farrell Sandra A, Filiano James, Schnur Rhonda E, Coffey Lauren B, Tervo Raymond C, Stroud Tracy, Marble Michael, Netzloff Michael, Hanson Kristen, Aylsworth Arthur S, Bamforth J S, Babu Deepti, Niyazov Dmitriy M, Ravnan J Britt, Schultz Roger A, Lamb Allen N, Torchia Beth S, Bejjani Bassem A, Shaffer Lisa G
Abstract excerpt
Microdeletions of 1q43q44 result in a recognizable clinical disorder characterized by moderate to severe intellectual disability (ID) with limited or no expressive speech, characteristic facial features, hand and foot anomalies, microcephaly (MIC), abnormalities (agenesis/hypogenesis) of the corpus callosum (ACC), and seizures (SZR). Critical regions have been proposed for some of the more prominent features of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.