22q11.2 deletion syndrome

Autosomal dominant Opitz G/BBB syndrome; CATCH22; Caylor cardiofacial syndrome; Conotruncal anomaly face syndrome (CTAF); Deletion 22q11.2 syndrome; Sedlackova syndrome; Shprintzen syndrome; VCFS; Velo-cardio-facial syndrome

22q11.2 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2. It has a birth incidence estimated at 1:4000. The features of this syndrome vary widely, even among members of the same family, and affect many parts of the body. Characteristic signs and symptoms include heart defects that are often present from birth, an opening in the roof of the mouth (a cleft palate or ot ...