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22q11.2 deletion syndrome as related to Velocardiofacial Syndrome


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Autosomal dominant Opitz G/BBB syndrome; CATCH22; Caylor cardiofacial syndrome; Conotruncal anomaly face syndrome (CTAF)... 

 

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. 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 other defect in the palate), learning disabilities,...

22 q11 microdeletion syndrome is a birth defect caused by a genetic abnormality that occurs in approximately one in 700 births.


22q11.2 deletion syndrome as related to Velocardiofacial Syndrome


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November 28, 2009



Page Updated: January 17, 2009
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