2.A "tricky" subarachnoid hemorrhage.
Yat-Fung SHEA ; Hoi-Lun Helen TSANG ; Yat-Hin Desmond YAP ; Lai-Fung LI ; Wai-Shing Wilson HO
Chinese Medical Journal 2013;126(18):3598-3598
3.Delayed diagnosis of 22q11.2 deletion syndrome in an adult Chinese lady.
Yat-Fung SHEA ; Chi-Ho LEE ; Harinder GILL ; Wing-Sun CHOW ; Yui-Ming LAM ; Ho-Ming LUK ; Stephen Tak-Sum LAM ; Leung-Wing CHU
Chinese Medical Journal 2012;125(16):2945-2947
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.
Adult
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Delayed Diagnosis
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DiGeorge Syndrome
;
diagnosis
;
genetics
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Female
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Humans
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Hypocalcemia
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diagnosis
;
genetics
Result Analysis
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