title: Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies.
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 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.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California.
authors.forename: Edward D
authors.initials: ED
authors.lastname: Esplin
authors.forename: Ben
authors.initials: B
authors.lastname: Li
authors.forename: Anne
authors.initials: A
authors.lastname: Slavotinek
authors.forename: Antonio
authors.initials: A
authors.lastname: Novelli
authors.forename: Agatino
authors.initials: A
authors.lastname: Battaglia
authors.forename: Robin
authors.initials: R
authors.lastname: Clark
authors.forename: Cynthia
authors.initials: C
authors.lastname: Curry
authors.forename: Louanne
authors.initials: L
authors.lastname: Hudgins
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D056905:Chromosome Breakpoints; D058674:Chromosome Duplication; D041321:Chromosomes, Human, X; D003025:Clubfoot / Q000235:genetics*; D003072:Cognition Disorders / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D023061:Gene Order; D056726:Genetic Association Studies; D056426:Genetic Loci; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D012640:Seizures / Q000235:genetics*; D055815:Young Adult
keywords: chromosomal duplication; copy-number; developmental delay; epilepsy; seizures; talipes