Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies

Edward D. Esplin, Ben Li, Anne Slavotinek, Antonio Novelli, Agatino Battaglia, Robin Clark, Cynthia Curry, Louanne Hudgins

Research output: Contribution to journalArticlepeer-review

Abstract

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 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 294kb to 1.6Mb. 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.

Original languageEnglish
Pages (from-to)2097-2103
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume164
Issue number8
DOIs
Publication statusPublished - 2014

Keywords

  • Chromosomal duplication
  • Copy-number
  • Developmental delay
  • Epilepsy
  • Seizures
  • Talipes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Medicine(all)

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