Microdeletion of chromosomal region 22q11 in XXXX : report of a case.

@entity1 @entity154 @entity717 @entity9963 @entity4239 @entity294 @entity1757 @entity1892 @entity460 @entity299 @entity118 @entity2418 @entity5766 @entity5216
This is a case of chromosome 22q11 deletion in a female Chinese @entity1 with @entity2418 . @entity299 included a @entity1892 interrupted aortic arch from the descending aorta with an @entity5216 , a large @entity1757 , a small @entity118 and a large patent ductus arteriosus. This @entity1 was small for her age and showed symptoms of feeding difficulties, chronic @entity294 and @entity154 (frontal bossing, @entity5766 , @entity717 , @entity9963 and @entity4239 ). Chest film did not reveal a thymic shadow. Immunological studies showed a low T-cell ratio (20%). Laboratory tests revealed a borderline low serum @entity460 level. The karyotype, 46, XX, del(22) (q11.21-->q11.23), was observed by high-resolution banding techniques. Cardiac surgery was successfully performed at 1 month of age. Operative findings confirmed @entity299 . To our knowledge, this is the first Taiwanese case of @entity2418 proven immunologically and cytogenetically.
