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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, BHY4
Drmic, I4
Marshall, CR1
Grafodatskaya, D4
Carter, M4
Fernandez, BA3
Weksberg, R4
Roberts, W4
Scherer, SW1 2
 
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
2012 Impact Factor: 1.685
2012 SCImago Journal Rankings: 1.029
 
DOIhttp://dx.doi.org/10.1016/j.ejmg.2011.05.008
 
ISI Accession Number IDWOS:000293745400009
 
ReferencesReferences in Scopus
 
DC FieldValue
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
2012 Impact Factor: 1.685
2012 SCImago Journal Rankings: 1.029
 
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
 
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Author Affiliations
  1. The Centre for Applied Genomics University of Toronto
  2. University of Toronto
  3. Memorial University of Newfoundland
  4. Hospital for Sick Children University of Toronto