Article: Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder

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TitlePhenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder
AuthorsChung, BHY3
Drmic, I3
Marshall, CR3
Grafodatskaya, D3
Carter, M3
Fernandez, BA2
Weksberg, R3
Roberts, W3
Scherer, SW1 3
KeywordsAutism Spectrum Disorder
Chromosome X duplication
Dup(X)(p11.22-p11.23)
Intellectual disability
Trichotillomania
Issue Date2011
PublisherElsevier France, Editions Scientifiques et Medicales. The Journal's web site is located at http://www.elsevier.com/locate/ejmg
CitationEuropean Journal Of Medical Genetics, 2011, v. 54 n. 5, p. e516-e520 [How to Cite?]
DOI: http://dx.doi.org/10.1016/j.ejmg.2011.05.008
AbstractDup(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. © 2011 Elsevier Masson SAS.
ISSN1769-7212
2011 Impact Factor: 2.178
2011 SCImago Journal Rankings: 0.245
DOIhttp://dx.doi.org/10.1016/j.ejmg.2011.05.008
ISI Accession Number IDWOS:000293745400009
ReferencesReferences in Scopus
DC Field
Value
dc.contributor.authorChung, BHY
dc.contributor.authorDrmic, I
dc.contributor.authorMarshall, CR
dc.contributor.authorGrafodatskaya, D
dc.contributor.authorCarter, M
dc.contributor.authorFernandez, BA
dc.contributor.authorWeksberg, R
dc.contributor.authorRoberts, W
dc.contributor.authorScherer, SW
dc.date.accessioned2011-07-27T01:33:35Z
dc.date.available2011-07-27T01:33:35Z
dc.date.issued2011
dc.description.abstractDup(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. © 2011 Elsevier Masson SAS.
dc.description.natureLink_to_subscribed_fulltext
dc.identifier.citationEuropean Journal Of Medical Genetics, 2011, v. 54 n. 5, p. e516-e520 [How to Cite?]
DOI: http://dx.doi.org/10.1016/j.ejmg.2011.05.008
dc.identifier.doihttp://dx.doi.org/10.1016/j.ejmg.2011.05.008
dc.identifier.epagee520
dc.identifier.hkuros186486
dc.identifier.isiWOS:000293745400009
dc.identifier.issn1769-7212
2011 Impact Factor: 2.178
2011 SCImago Journal Rankings: 0.245
dc.identifier.issue5
dc.identifier.pmid21689796
dc.identifier.scopuseid_2-s2.0-79961126962
dc.identifier.spagee516
dc.identifier.urihttp://hdl.handle.net/10722/135322
dc.identifier.volume54
dc.languageeng
dc.publisherElsevier France, Editions Scientifiques et Medicales. The Journal's web site is located at http://www.elsevier.com/locate/ejmg
dc.publisher.placeFrance
dc.relation.ispartofEuropean Journal of Medical Genetics
dc.relation.referencesReferences in Scopus
dc.subjectAutism Spectrum Disorder
dc.subjectChromosome X duplication
dc.subjectDup(X)(p11.22-p11.23)
dc.subjectIntellectual disability
dc.subjectTrichotillomania
dc.titlePhenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder
dc.typeArticle
Author Affiliations
  1. University of Toronto
  2. Memorial University of Newfoundland
  3. Hospital for Sick Children, Toronto