Orphanet: 22q11.2 duplication syndrome

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22q11.2 duplication syndrome

Disease definition

A rare chromosomal anomaly characterized by an extremely variable clinical phenotype and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal.


Classification level: Disorder
  • Synonym(s):
    • 22q11.2 microduplication syndrome
    • Dup(22)(q11)
    • Duplication 22q11.2
    • Trisomy 22q11.2
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: Q92.3
  • OMIM: 608363
  • UMLS: C2675369
  • MeSH: -
  • GARD: 10557
  • MedDRA: -

Detailed information

General public

Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)
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