The 22q11.2 deletion syndrome.

Abstract excerpt

The 22q11.2 deletion syndrome (22q11DS) encompasses DiGeorge syndrome, velo-cardio-facial syndrome and conotruncal anomaly face syndrome and is due to a microdeletion of chromosome 22q11.2. This is the most frequent known interstitial deletion found in human with an incidence of 1 in 4,000 live births. A large number of clinical findings have been reported in affected patients, including cardiac defects,...

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