x

Search for a rare disease

* (*) mandatory field

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

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.

ORPHA:1727

  • 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

Professionals

Additional information

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.