File Download

There are no files associated with this item.

  Links for fulltext
     (May Require Subscription)
Supplementary

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

TitlePhenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder
Authors
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
Citation
European Journal Of Medical Genetics, 2011, v. 54 n. 5, p. e516-e520 How to Cite?
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. © 2011 Elsevier Masson SAS.
Persistent Identifierhttp://hdl.handle.net/10722/135322
ISSN
2013 Impact Factor: 1.486
ISI Accession Number ID
References

 

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
DC FieldValueLanguage
dc.contributor.authorChung, BHYen_HK
dc.contributor.authorDrmic, Ien_HK
dc.contributor.authorMarshall, CRen_HK
dc.contributor.authorGrafodatskaya, Den_HK
dc.contributor.authorCarter, Men_HK
dc.contributor.authorFernandez, BAen_HK
dc.contributor.authorWeksberg, Ren_HK
dc.contributor.authorRoberts, Wen_HK
dc.contributor.authorScherer, SWen_HK
dc.date.accessioned2011-07-27T01:33:35Z-
dc.date.available2011-07-27T01:33:35Z-
dc.date.issued2011en_HK
dc.identifier.citationEuropean Journal Of Medical Genetics, 2011, v. 54 n. 5, p. e516-e520en_HK
dc.identifier.issn1769-7212en_HK
dc.identifier.urihttp://hdl.handle.net/10722/135322-
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.en_HK
dc.languageengen_US
dc.publisherElsevier France, Editions Scientifiques et Medicales. The Journal's web site is located at http://www.elsevier.com/locate/ejmgen_HK
dc.relation.ispartofEuropean Journal of Medical Geneticsen_HK
dc.subjectAutism Spectrum Disorderen_HK
dc.subjectChromosome X duplicationen_HK
dc.subjectDup(X)(p11.22-p11.23)en_HK
dc.subjectIntellectual disabilityen_HK
dc.subjectTrichotillomaniaen_HK
dc.titlePhenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorderen_HK
dc.typeArticleen_HK
dc.identifier.emailChung, BHY:bhychung@hku.hken_HK
dc.identifier.authorityChung, BHY=rp00473en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1016/j.ejmg.2011.05.008en_HK
dc.identifier.pmid21689796en_HK
dc.identifier.scopuseid_2-s2.0-79961126962en_HK
dc.identifier.hkuros186486en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-79961126962&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume54en_HK
dc.identifier.issue5en_HK
dc.identifier.spagee516en_HK
dc.identifier.epagee520en_HK
dc.identifier.isiWOS:000293745400009-
dc.publisher.placeFranceen_HK
dc.identifier.scopusauthoridChung, BHY=7203043997en_HK
dc.identifier.scopusauthoridDrmic, I=15065204700en_HK
dc.identifier.scopusauthoridMarshall, CR=7201903397en_HK
dc.identifier.scopusauthoridGrafodatskaya, D=36096694800en_HK
dc.identifier.scopusauthoridCarter, M=23487776200en_HK
dc.identifier.scopusauthoridFernandez, BA=7201505098en_HK
dc.identifier.scopusauthoridWeksberg, R=7006112330en_HK
dc.identifier.scopusauthoridRoberts, W=7403316556en_HK
dc.identifier.scopusauthoridScherer, SW=35374654500en_HK

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats