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

 

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