15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes. Issue 7 (July 2015)

• Record Type: Journal Article
• Authors: Noor, Abdul; Dupuis, Lucie; Mittal, Kirti; Lionel, Anath C.; Marshall, Christian R.; Scherer, Stephen W.; Stockley, Tracy; Vincent, John B.; Mendoza‐Londono, Roberto; Stavropoulos, Dimitri J.
• Is Part Of: Human mutation. Volume 36:Issue 7(2015:Jul.)
• Page Start: 689
• Page End: 693
• Publication Date: 2015-07
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22800
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22800-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>A duplication involving only the UBE3A gene was identified in a family with neuropsychiatric phenotypes. Family members with maternal inheritance of this duplication were found to have a broad range of phenotypes including autistic features, learning disability, schizophrenia, depression and anxiety. <graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgj11pwmz4n" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></p> </abstract>