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22q11.2 microduplication syndrome

Disease 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; see this term), establishing a complementary duplication syndrome.


Classification level: Disorder
  • Synonym(s):
    • Dup(22)(q11)
    • Duplication 22q11.2
    • Trisomy 22q11.2
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Infancy
  • ICD-10: Q92.3
  • OMIM: 608363
  • UMLS: C2675369
  • MeSH: -
  • GARD: 10557
  • MedDRA: -

Detailed information


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