Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies. Issue 8 (6th May 2014)

• Record Type: Journal Article
• Authors: Esplin, Edward D.; Li, Ben; Slavotinek, Anne; Novelli, Antonio; Battaglia, Agatino; Clark, Robin; Curry, Cynthia; Hudgins, Louanne
• Is Part Of: American journal of medical genetics. Volume 164:Issue 8(2014.)
• Page Start: 2097
• Page End: 2103
• Publication Date: 2014-05-06
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36598
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36598-sec-0001" sec-type="section"> <p>Comparative genomic hybridization (CGH) arrays have significantly changed the approach to identifying genetic alterations causing intellectual disability and congenital anomalies. Several studies have described the microduplication of Xp22.31, involving the <italic>STS</italic> gene. In such reports characteristic features and pathogenicity of Xp22.31 duplications remains a subject of debate. Here we present a series of nine previously unreported individuals with Xp22.31 duplications, found through microarray analysis in the course of genetic workup for developmental delay, associated with a combination of talipes anomalies, seizures and/or feeding difficulties. The size of the Xp22.31 duplications ranged from 294 kb to 1.6 Mb. We show a comparison of the breakpoints, inheritance and clinical phenotype, and a review of the literature. This clinically detailed series of Xp22.31 duplication patients provides evidence that the Xp22.31 duplication contributes to a common phenotype. © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>