The newly described 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 disease is chromosome 22q11.2 microduplication syndrome (Monarch Disease Ontology identifier MONDO_0012020). Also known as: 22q11 duplication syndrome, 22q11.2 microduplication syndrome, Duplication 22q11.2, chromosome 22q11.2 microduplication syndrome, isolated cases, dup(22)(q11), duplication 22q11.2, trisomy 22q11.2.