Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 164, Issue 8, Pages 2097-2103Publisher
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.36598
Keywords
chromosomal duplication; epilepsy; seizures; developmental delay; copy-number; talipes
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Funding
- Tashia and John Morgridge Endowed Postdoctoral Fellowship through the Child Health Research Institute
- Stanford CTSA [UL1 TR000093]
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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 STS 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 micro-array 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. (C) 2014 Wiley Periodicals, Inc.
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