chromosome 22q11.2 microduplication syndrome
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.
MONDO:0016972
partial duplication of the long arm of chromosome 22
is_a
22q11 duplication syndrome
exact
22q11.2 duplication
related
22q11.2 duplication syndrome
related
22q11.2 microduplication syndrome
exact
Duplication 22q11.2
exact
chromosome 22q11.2 duplication syndrome
related
chromosome 22q11.2 microduplication syndrome
exact
chromosome 22q11.2 microduplication syndrome, isolated cases
exact
dup(22)(q11)
exact
duplication 22q11.2
exact
trisomy 22q11.2
exact