DiGeorge syndrome/sequence
DiGeorge syndrome/sequence
GeneticsA 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.
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