Recognizing a common genetic syndrome: 22q11.2 deletion syndrome

Kapadia, Ronak K.; Bassett, Anne S.
February 2008
CMAJ: Canadian Medical Association Journal;2/12/2008, Vol. 178 Issue 4, p391
Academic Journal
Case Study
The article presents a case study of a 24-year-old woman with multiple medical, surgical and psychiatric issues. She had a history of asymptomatic mild congenital pulmonary stenosis that required antibiotic prophylaxis. She was found to have hypertelorism, strabismus, bulbous nasal tip and small ears. She was diagnosed of having 22q11.2 deletion syndrome with genetic counselling and long-term management of associated medical, surgical and psychiatric conditions.


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