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Article: Phenotypic variability of distal 22q11.2 copy number abnormalities

TitlePhenotypic variability of distal 22q11.2 copy number abnormalities
Authors
Issue Date2011
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html
Citation
American Journal Of Medical Genetics, Part A, 2011, v. 155 n. 7, p. 1623-1633 How to Cite?
AbstractThe availability of microarray technology has led to the recent recognition of copy number abnormalities of distal chromosome 22q11.2 that are distinct from the better-characterized deletions and duplications of the proximal region. This report describes five unrelated individuals with copy number abnormalities affecting distal chromosome 22q11.2. We report on novel phenotypic features including diaphragmatic hernia and uterine didelphys associated with the distal microdeletion syndrome; and frontomedial polymicrogyria and callosal agenesis associated with the distal microduplication syndrome. We describe the third distal chromosome 22q11.2 microdeletion patient with Goldenhar syndrome. Patients with distal chromosome 22q11.2 copy number abnormalities exhibit inter- and intra-familial phenotypic variability, and challenge our ability to draw meaningful genotype-phenotype correlations. © 2011 Wiley-Liss, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/170452
ISSN
2015 Impact Factor: 2.082
2015 SCImago Journal Rankings: 1.115
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorTan, TYen_US
dc.contributor.authorCollins, Aen_US
dc.contributor.authorJames, PAen_US
dc.contributor.authorMcgillivray, Gen_US
dc.contributor.authorStark, Zen_US
dc.contributor.authorGordon, CTen_US
dc.contributor.authorLeventer, RJen_US
dc.contributor.authorPope, Ken_US
dc.contributor.authorForbes, Ren_US
dc.contributor.authorCrolla, JAen_US
dc.contributor.authorGanesamoorthy, Den_US
dc.contributor.authorBurgess, Ten_US
dc.contributor.authorBruno, DLen_US
dc.contributor.authorSlater, HRen_US
dc.contributor.authorFarlie, PGen_US
dc.contributor.authorAmor, DJen_US
dc.date.accessioned2012-10-30T06:09:03Z-
dc.date.available2012-10-30T06:09:03Z-
dc.date.issued2011en_US
dc.identifier.citationAmerican Journal Of Medical Genetics, Part A, 2011, v. 155 n. 7, p. 1623-1633en_US
dc.identifier.issn1552-4825en_US
dc.identifier.urihttp://hdl.handle.net/10722/170452-
dc.description.abstractThe availability of microarray technology has led to the recent recognition of copy number abnormalities of distal chromosome 22q11.2 that are distinct from the better-characterized deletions and duplications of the proximal region. This report describes five unrelated individuals with copy number abnormalities affecting distal chromosome 22q11.2. We report on novel phenotypic features including diaphragmatic hernia and uterine didelphys associated with the distal microdeletion syndrome; and frontomedial polymicrogyria and callosal agenesis associated with the distal microduplication syndrome. We describe the third distal chromosome 22q11.2 microdeletion patient with Goldenhar syndrome. Patients with distal chromosome 22q11.2 copy number abnormalities exhibit inter- and intra-familial phenotypic variability, and challenge our ability to draw meaningful genotype-phenotype correlations. © 2011 Wiley-Liss, Inc.en_US
dc.languageengen_US
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.htmlen_US
dc.relation.ispartofAmerican Journal of Medical Genetics, Part Aen_US
dc.subject.meshAdolescenten_US
dc.subject.meshAdulten_US
dc.subject.meshChilden_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshChromosomes, Human, Pair 22 - Geneticsen_US
dc.subject.meshDna Copy Number Variations - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenetic Association Studiesen_US
dc.subject.meshGoldenhar Syndrome - Geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshInfant, Newbornen_US
dc.subject.meshMaleen_US
dc.subject.meshPhenotypeen_US
dc.subject.meshRepetitive Sequences, Nucleic Acid - Geneticsen_US
dc.subject.meshYoung Adulten_US
dc.titlePhenotypic variability of distal 22q11.2 copy number abnormalitiesen_US
dc.typeArticleen_US
dc.identifier.emailTan, TY:tanty@hku.hken_US
dc.identifier.authorityTan, TY=rp01380en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1002/ajmg.a.34051en_US
dc.identifier.pmid21671380-
dc.identifier.scopuseid_2-s2.0-79959534034en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-79959534034&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume155en_US
dc.identifier.issue7en_US
dc.identifier.spage1623en_US
dc.identifier.epage1633en_US
dc.identifier.isiWOS:000291944700020-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridTan, TY=8567188100en_US
dc.identifier.scopusauthoridCollins, A=7403186239en_US
dc.identifier.scopusauthoridJames, PA=26323309200en_US
dc.identifier.scopusauthoridMcgillivray, G=8985369800en_US
dc.identifier.scopusauthoridStark, Z=7801695207en_US
dc.identifier.scopusauthoridGordon, CT=8527340000en_US
dc.identifier.scopusauthoridLeventer, RJ=6602750391en_US
dc.identifier.scopusauthoridPope, K=53881932800en_US
dc.identifier.scopusauthoridForbes, R=22633922000en_US
dc.identifier.scopusauthoridCrolla, JA=7006677761en_US
dc.identifier.scopusauthoridGanesamoorthy, D=26430762500en_US
dc.identifier.scopusauthoridBurgess, T=7005669495en_US
dc.identifier.scopusauthoridBruno, DL=8047757000en_US
dc.identifier.scopusauthoridSlater, HR=7006294268en_US
dc.identifier.scopusauthoridFarlie, PG=6602502556en_US
dc.identifier.scopusauthoridAmor, DJ=7004097069en_US

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