Chromosome 22q11.2 microduplication syndrome
Chromosome 22q11.2 microduplication syndrome
Definition
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.
Also known as 22q11 duplication syndrome, 22q11.2 microduplication syndrome, chromosome 22q11.2 microduplication syndrome, chromosome 22q11.2 microduplication syndrome, isolated cases, dup(22)(q11), Duplication 22q11.2, trisomy 22q11.2 — per MONDO