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Distal 22q11.2 microduplication syndrome

Disease definition

A rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, behavioral anomalies, and non-specific craniofacial dysmorphism. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, and seizures have also been reported. Penetrance is incomplete. In 70% of cases, the duplication is inherited from as asymptomatic parent.


Classification level: Disorder
  • Synonym(s):
    • Distal dup(22)(q11.2)
    • Distal trisomy 22q11.2
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Antenatal, Infancy, Childhood, Neonatal
  • ICD-10: Q92.3
  • ICD-11: LD41.M
  • OMIM: -
  • UMLS: C4706942
  • MeSH: -
  • GARD: -
  • MedDRA: -
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