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Article: Delayed diagnosis of 22q11.2 deletion syndrome in an adult Chinese lady

TitleDelayed diagnosis of 22q11.2 deletion syndrome in an adult Chinese lady
Authors
Shea, Yat-FungLee, Chi-hoGill, HarinderChow, Wing-sunLam, Yui-MingLuk, Ho-mingLam, StephenChu, Leung-wing
KeywordsHypocalcemia
Digeorge syndrome
Adult
Issue Date2012
PublisherChinese Medical Association. The Journal's web site is located at http://www.cmj.org/
Citation
Chinese Medical Journal, 2012, v. 125, n. 16, p. 2945-2947 How to Cite?
DOI: http://dx.doi.org/10.3760/cma.j.issn.0366-6999.2012.16.027
AbstractWe report a 32 year-old Chinese lady with history of tetralogy of Fallot, presented to us with chest pain due to hypocalcemia secondary to hypoparathyroidism. With her dysmorphic facial features and intellectual disability 22q11.2 deletion was suspected and confirmed by genetic study. Clinicians should consider the diagnosis of DiGeorge syndrome in adult patient with past medical history of congenital heart disease, facial dysmorphism, intellectual disability and primary hypoparathyroidism.
Persistent Identifierhttp://hdl.handle.net/10722/200106
ISSN
0366-6999
2023 Impact Factor: 7.5
2023 SCImago Journal Rankings: 0.997
ISI Accession Number ID
WOS:000309378000027

 

DC FieldValueLanguage
dc.contributor.authorShea, Yat-Fung-
dc.contributor.authorLee, Chi-ho-
dc.contributor.authorGill, Harinder-
dc.contributor.authorChow, Wing-sun-
dc.contributor.authorLam, Yui-Ming-
dc.contributor.authorLuk, Ho-ming-
dc.contributor.authorLam, Stephen-
dc.contributor.authorChu, Leung-wing-
dc.date.accessioned2014-07-26T23:11:08Z-
dc.date.available2014-07-26T23:11:08Z-
dc.date.issued2012-
dc.identifier.citationChinese Medical Journal, 2012, v. 125, n. 16, p. 2945-2947-
dc.identifier.issn0366-6999-
dc.identifier.urihttp://hdl.handle.net/10722/200106-
dc.description.abstractWe report a 32 year-old Chinese lady with history of tetralogy of Fallot, presented to us with chest pain due to hypocalcemia secondary to hypoparathyroidism. With her dysmorphic facial features and intellectual disability 22q11.2 deletion was suspected and confirmed by genetic study. Clinicians should consider the diagnosis of DiGeorge syndrome in adult patient with past medical history of congenital heart disease, facial dysmorphism, intellectual disability and primary hypoparathyroidism.-
dc.languageeng-
dc.publisherChinese Medical Association. The Journal's web site is located at http://www.cmj.org/-
dc.relation.ispartofChinese Medical Journal-
dc.subjectHypocalcemia-
dc.subjectDigeorge syndrome-
dc.subjectAdult-
dc.titleDelayed diagnosis of 22q11.2 deletion syndrome in an adult Chinese lady-
dc.typeArticle-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.3760/cma.j.issn.0366-6999.2012.16.027-
dc.identifier.pmid22932096-
dc.identifier.scopuseid_2-s2.0-84865370455-
dc.identifier.hkuros265720-
dc.identifier.volume125-
dc.identifier.issue16-
dc.identifier.spage2945-
dc.identifier.epage2947-
dc.identifier.isiWOS:000309378000027-
dc.publisher.placeChina-
dc.identifier.issnl0366-6999-

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