Chromosome 22q11.2 microduplication syndrome

MONDO:0012020

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, Duplication 22q11.2, chromosome 22q11.2 microduplication syndrome, chromosome 22q11.2 microduplication syndrome, isolated cases, dup(22)(q11), duplication 22q11.2, trisomy 22q11.2

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↑ Partial duplication of the long arm of chromosome 22 (0)

Sub-types of Chromosome 22q11.2 microduplication syndrome

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