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Chromosome 22q11.2 microduplication syndrome

rare

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.

Identifiers
MONDO:0012020 OMIM:608363Orphanet:1727
Part of
Partial duplication of the long arm of chromosome 22
Also known as
22q11 duplication syndrome · 22q11.2 duplication · 22q11.2 duplication syndrome · 22q11.2 microduplication syndrome · chromosome 22q11.2 duplication syndrome

Subtypes

All diseases Rare only

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