DiGeorge syndrome/sequence

DiGeorge syndrome/sequence

Genetics
A popular synonym for velo-cardio-facial syndrome, also known as 22q11.2 deletion syndrome, which affects about 1:4000  of those in the general population and is characterised by cleft palate, congenital heart defects, learning disabilities and 180 other clinical findings, including head and neck deformities.

Diagnosis
FISH.