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Article: Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome

TitlePhenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome
Authors
Issue Date2009
PublisherBMJ Group. The Journal's web site is located at http://jmg.bmj.com/
Citation
Journal Of Medical Genetics, 2009, v. 46 n. 7, p. 480-489 How to Cite?
AbstractBackground: The recognition of the 17q21.31 microdeletion syndrome has been facilitated by high resolution microarray technology. Recent clinical delineation of this condition emphasises a typical facial appearance, cardiac and renal defects, and speech delay in addition to intellectual disability, hypotonia and seizures. Methods and results: We describe 11 previously unreported patients expanding the phenotypic spectrum to include aortic root dilatation, recurrent joint subluxation, conductive hearing loss due to chronic otitis media, dental anomalies, and persistence of fetal fingertip pads. Molecular analysis of the deletions demonstrates a critical region spanning 440 kb involving either partially or wholly five genes, CRHR1, IMP5, MAPT, STH, and KIAA1267. Conclusion: These data have significant implications for the clinical diagnosis and management of other individuals with 17q21.31 deletions.
Persistent Identifierhttp://hdl.handle.net/10722/170417
ISSN
2015 Impact Factor: 5.65
2015 SCImago Journal Rankings: 3.820
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorTan, TYen_US
dc.contributor.authorAftimos, Sen_US
dc.contributor.authorWorgan, Len_US
dc.contributor.authorSusman, Ren_US
dc.contributor.authorWilson, Men_US
dc.contributor.authorGhedia, Sen_US
dc.contributor.authorKirk, EPen_US
dc.contributor.authorLove, Den_US
dc.contributor.authorRonan, Aen_US
dc.contributor.authorDarmanian, Aen_US
dc.contributor.authorSlavotinek, Aen_US
dc.contributor.authorHogue, Jen_US
dc.contributor.authorMoeschler, JBen_US
dc.contributor.authorOzmore, Jen_US
dc.contributor.authorWidmer, Ren_US
dc.contributor.authorSavarirayan, Ren_US
dc.contributor.authorPeters, Gen_US
dc.date.accessioned2012-10-30T06:08:24Z-
dc.date.available2012-10-30T06:08:24Z-
dc.date.issued2009en_US
dc.identifier.citationJournal Of Medical Genetics, 2009, v. 46 n. 7, p. 480-489en_US
dc.identifier.issn0022-2593en_US
dc.identifier.urihttp://hdl.handle.net/10722/170417-
dc.description.abstractBackground: The recognition of the 17q21.31 microdeletion syndrome has been facilitated by high resolution microarray technology. Recent clinical delineation of this condition emphasises a typical facial appearance, cardiac and renal defects, and speech delay in addition to intellectual disability, hypotonia and seizures. Methods and results: We describe 11 previously unreported patients expanding the phenotypic spectrum to include aortic root dilatation, recurrent joint subluxation, conductive hearing loss due to chronic otitis media, dental anomalies, and persistence of fetal fingertip pads. Molecular analysis of the deletions demonstrates a critical region spanning 440 kb involving either partially or wholly five genes, CRHR1, IMP5, MAPT, STH, and KIAA1267. Conclusion: These data have significant implications for the clinical diagnosis and management of other individuals with 17q21.31 deletions.en_US
dc.languageengen_US
dc.publisherBMJ Group. The Journal's web site is located at http://jmg.bmj.com/en_US
dc.relation.ispartofJournal of Medical Geneticsen_US
dc.subject.meshAbnormalities, Multiple - Diagnosis - Genetics - Pathologyen_US
dc.subject.meshChilden_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshChromosomes, Human, Pair 17en_US
dc.subject.meshComparative Genomic Hybridizationen_US
dc.subject.meshFemaleen_US
dc.subject.meshGene Deletionen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshMaleen_US
dc.subject.meshOligonucleotide Array Sequence Analysisen_US
dc.subject.meshPhenotypeen_US
dc.subject.meshSyndromeen_US
dc.titlePhenotypic expansion and further characterisation of the 17q21.31 microdeletion syndromeen_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.doi10.1136/jmg.2008.065391en_US
dc.identifier.pmid19447831en_US
dc.identifier.scopuseid_2-s2.0-67650446211en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-67650446211&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume46en_US
dc.identifier.issue7en_US
dc.identifier.spage480en_US
dc.identifier.epage489en_US
dc.identifier.isiWOS:000267603600011-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridTan, TY=8567188100en_US
dc.identifier.scopusauthoridAftimos, S=7003377499en_US
dc.identifier.scopusauthoridWorgan, L=10840641000en_US
dc.identifier.scopusauthoridSusman, R=14822555200en_US
dc.identifier.scopusauthoridWilson, M=7408666202en_US
dc.identifier.scopusauthoridGhedia, S=15062636100en_US
dc.identifier.scopusauthoridKirk, EP=7102096434en_US
dc.identifier.scopusauthoridLove, D=7202201340en_US
dc.identifier.scopusauthoridRonan, A=54901711700en_US
dc.identifier.scopusauthoridDarmanian, A=6603194664en_US
dc.identifier.scopusauthoridSlavotinek, A=7006752703en_US
dc.identifier.scopusauthoridHogue, J=36522834500en_US
dc.identifier.scopusauthoridMoeschler, JB=6701710776en_US
dc.identifier.scopusauthoridOzmore, J=35079115100en_US
dc.identifier.scopusauthoridWidmer, R=7007171092en_US
dc.identifier.scopusauthoridSavarirayan, R=7003566196en_US
dc.identifier.scopusauthoridPeters, G=7401522921en_US
dc.identifier.citeulike5781611-

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