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Article: A newborn with a 790 kb chromosome 17p13.3 microduplication presenting with aortic stenosis, microcephaly and dysmorphic facial features - Is cardiac assessment necessary for all patients with 17p13.3 microduplication?

TitleA newborn with a 790 kb chromosome 17p13.3 microduplication presenting with aortic stenosis, microcephaly and dysmorphic facial features - Is cardiac assessment necessary for all patients with 17p13.3 microduplication?
Authors
KeywordsAortic Stenosis
Array Comparative Genomic Hybridization
Chromosome 17P13.3
Chromosome Aberration
Dysmorphism
Microcephaly
Microduplication
Issue Date2012
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, 2012, v. 55 n. 12, p. 758-762 How to Cite?
AbstractWhile deletion of chromosome 17p13.3 (encompassing PAFAH1B1 and YWHAE genes) is known to result in Miller-Dieker syndrome (OMIM 247200), 17p13.3 microduplication gives rise to a condition commonly associated with developmental delay and autism spectrum disorder. We report a Chinese newborn presenting with dysmorphic features, microcephaly and valvar aortic stenosis, who was confirmed to have a 790 kb microduplication in chromosome 17p13.3 by array comparative genomic hybridization (aCGH). The patient passed away at 4 months of age with presumably life-threatening event associated with his cardiac condition. From literature review, congenital heart diseases of various kinds were identified in up to 20% of patients with 17p13.3 microduplication. We propose cardiac assessment should be part of the comprehensive evaluation of these patients. © 2012 Elsevier Masson SAS.
Persistent Identifierhttp://hdl.handle.net/10722/180705
ISSN
2015 Impact Factor: 1.81
2015 SCImago Journal Rankings: 0.934
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorHo, ACCen_US
dc.contributor.authorLiu, APYen_US
dc.contributor.authorLun, KSen_US
dc.contributor.authorTang, WFen_US
dc.contributor.authorChan, KYKen_US
dc.contributor.authorLau, EYTen_US
dc.contributor.authorTang, MHYen_US
dc.contributor.authorTan, TYen_US
dc.contributor.authorChung, BHYen_US
dc.date.accessioned2013-01-28T01:41:18Z-
dc.date.available2013-01-28T01:41:18Z-
dc.date.issued2012en_US
dc.identifier.citationEuropean Journal Of Medical Genetics, 2012, v. 55 n. 12, p. 758-762en_US
dc.identifier.issn1769-7212en_US
dc.identifier.urihttp://hdl.handle.net/10722/180705-
dc.description.abstractWhile deletion of chromosome 17p13.3 (encompassing PAFAH1B1 and YWHAE genes) is known to result in Miller-Dieker syndrome (OMIM 247200), 17p13.3 microduplication gives rise to a condition commonly associated with developmental delay and autism spectrum disorder. We report a Chinese newborn presenting with dysmorphic features, microcephaly and valvar aortic stenosis, who was confirmed to have a 790 kb microduplication in chromosome 17p13.3 by array comparative genomic hybridization (aCGH). The patient passed away at 4 months of age with presumably life-threatening event associated with his cardiac condition. From literature review, congenital heart diseases of various kinds were identified in up to 20% of patients with 17p13.3 microduplication. We propose cardiac assessment should be part of the comprehensive evaluation of these patients. © 2012 Elsevier Masson SAS.en_US
dc.languageengen_US
dc.publisherElsevier France, Editions Scientifiques et Medicales. The Journal's web site is located at http://www.elsevier.com/locate/ejmgen_US
dc.relation.ispartofEuropean Journal of Medical Geneticsen_US
dc.subjectAortic Stenosisen_US
dc.subjectArray Comparative Genomic Hybridizationen_US
dc.subjectChromosome 17P13.3en_US
dc.subjectChromosome Aberrationen_US
dc.subjectDysmorphismen_US
dc.subjectMicrocephalyen_US
dc.subjectMicroduplicationen_US
dc.titleA newborn with a 790 kb chromosome 17p13.3 microduplication presenting with aortic stenosis, microcephaly and dysmorphic facial features - Is cardiac assessment necessary for all patients with 17p13.3 microduplication?en_US
dc.typeArticleen_US
dc.identifier.emailTang, MHY: mhytang@hkucc.hku.hken_US
dc.identifier.emailChung, BHY: bhychung@hku.hken_US
dc.identifier.authorityTang, MHY=rp01701en_US
dc.identifier.authorityChung, BHY=rp00473en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1016/j.ejmg.2012.09.011en_US
dc.identifier.pmid23063769-
dc.identifier.scopuseid_2-s2.0-84869888175en_US
dc.identifier.hkuros212397-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-84869888175&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume55en_US
dc.identifier.issue12en_US
dc.identifier.spage758en_US
dc.identifier.epage762en_US
dc.identifier.isiWOS:000313099400019-
dc.publisher.placeFranceen_US
dc.identifier.scopusauthoridHo, ACC=55441207300en_US
dc.identifier.scopusauthoridLiu, APY=55443032000en_US
dc.identifier.scopusauthoridLun, KS=55443984500en_US
dc.identifier.scopusauthoridTang, WF=55444109600en_US
dc.identifier.scopusauthoridChan, KYK=36989360800en_US
dc.identifier.scopusauthoridLau, EYT=55442901000en_US
dc.identifier.scopusauthoridTang, MHY=8943401300en_US
dc.identifier.scopusauthoridTan, TY=55442792600en_US
dc.identifier.scopusauthoridChung, BHY=7203043997en_US

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