chromosome 22q11.2 microduplication syndrome

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Disease Overview

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.


Synonyms

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

GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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National Organization for Rare Disorders