22q11.2 distal deletion syndrome
22q11.2 distal deletion syndrome is a rare genetic condition caused by a tiny missing part of one of the body’s 46 chromosomes – chromosome 22. 22q11.2 distal deletion syndrome appears to be a recurrent genomic disorder distinct from DiGeorge syndrome (DGS; 188400) and velocardiofacial syndrome (VCFS; 192430).
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