title: Delayed diagnosis of 22q11.2 deletion syndrome in an adult Chinese lady.
abstract: We 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.
authors.affiliation: Department of Medicine, Queen Mary Hospital, the University of Hong Kong, Hong Kong, China. elphashea@gmail.com
authors.forename: Yat-Fung
authors.initials: YF
authors.lastname: Shea
authors.forename: Chi-Ho
authors.initials: CH
authors.lastname: Lee
authors.forename: Harinder
authors.initials: H
authors.lastname: Gill
authors.forename: Wing-Sun
authors.initials: WS
authors.lastname: Chow
authors.forename: Yui-Ming
authors.initials: YM
authors.lastname: Lam
authors.forename: Ho-Ming
authors.initials: HM
authors.lastname: Luk
authors.forename: Stephen Tak-Sum
authors.initials: ST
authors.lastname: Lam
authors.forename: Leung-Wing
authors.initials: LW
authors.lastname: Chu
mesh_terms: D000328:Adult; D057210:Delayed Diagnosis; D004062:DiGeorge Syndrome / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D006996:Hypocalcemia / Q000175:diagnosis / Q000235:genetics