Catalog

22q11.2 duplication syndrome

No MMS code

Link to WHO Definition

22q11.2 duplication syndrome – http://id.who.int/icd/entity/2061812554

22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS), establishing a complementary duplication syndrome. The clinical presentation of patients is extremely variable and shares features with 22q11.2 deletion syndromes (DG/VCFS), including heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal.