Delayed diagnosis of 22q11.2 deletion syndrome in an adult Chinese lady.
- Author:
Yat-Fung SHEA
1
;
Chi-Ho LEE
;
Harinder GILL
;
Wing-Sun CHOW
;
Yui-Ming LAM
;
Ho-Ming LUK
;
Stephen Tak-Sum LAM
;
Leung-Wing CHU
Author Information
1. Department of Medicine, Queen Mary Hospital, the University of Hong Kong, Hong Kong, China. elphashea@gmail.com
- Publication Type:Case Reports
- MeSH:
Adult;
Delayed Diagnosis;
DiGeorge Syndrome;
diagnosis;
genetics;
Female;
Humans;
Hypocalcemia;
diagnosis;
genetics
- From:
Chinese Medical Journal
2012;125(16):2945-2947
- CountryChina
- Language:English
-
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.
