title: Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
abstract: Dup(X)(p11.22-p11.23) has been shown to be associated with intellectual disability (ID, also referred to as mental retardation). Here, we characterize a 4.64 Mb de novo duplication of the same Xp11.22-p11.23 ID region in a female, but for this reference case the diagnosis was Autism Spectrum Disorder (ASD). Besides ASD, she also had very persistent trichotillomania, anxiety symptoms and some non-specific dysmorphic features. We report the detailed clinical features, as well as refine the rearrangement breakpoints of this disease-associated copy number variation region, which encompasses more than 50 genes. We propose that in addition to ID, the phenotypic spectrum associated with dup(X)(p11.22-p11.23) can include ASD, language impairment, and/or other primary psychiatric disorders.
authors.affiliation: Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada.
authors.forename: Brian H Y
authors.initials: BH
authors.lastname: Chung
authors.forename: Irene
authors.initials: I
authors.lastname: Drmic
authors.forename: Christian R
authors.initials: CR
authors.lastname: Marshall
authors.forename: Daria
authors.initials: D
authors.lastname: Grafodatskaya
authors.forename: Melissa
authors.initials: M
authors.lastname: Carter
authors.forename: Bridget A
authors.initials: BA
authors.lastname: Fernandez
authors.forename: Rosanna
authors.initials: R
authors.lastname: Weksberg
authors.forename: Wendy
authors.initials: W
authors.lastname: Roberts
authors.forename: Stephen W
authors.initials: SW
authors.lastname: Scherer
mesh_terms: D002648:Child; D002659:Child Development Disorders, Pervasive / Q000175:diagnosis / Q000235:genetics*; D058674:Chromosome Duplication / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D056915:DNA Copy Number Variations / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D010641:Phenotype; D049951:X Chromosome Inactivation / Q000235:genetics