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Diseases

Genetic and Rare Diseases Information Center (GARD)

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22q11.2 deletion syndrome


Other Names for this Disease

  • Autosomal dominant Opitz G/BBB syndrome
  • CATCH22
  • Cayler cardiofacial syndrome
  • Chromosome 22q11.2 deletion syndrome
  • Conotruncal anomaly face syndrome
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Cause

Newline Maker

What causes 22q11.2 deletion syndrome?

22q11.2 deletion syndrome is caused by a missing piece (deletion) of part of chromosome 22 in each cell. The deletion occurs near the middle of the chromosome at a location designated q11.2.

Most people with 22q11.2 deletion syndrome are missing a piece of the chromosome that contains about 30 to 40 genes, many of which have not been well characterized. Some affected people have smaller deletions. Researchers are working to learn more about all of the genes that contribute to the features of 22q11.2 deletion syndrome. The deletion of a particular gene, TBX1, is probably responsible for many of the syndrome's characteristic signs (such as heart defects, a cleft palate, distinctive facial features, hearing loss, and low calcium levels). Loss of this gene may also contribute to behavioral problems. The loss of another gene, COMT, may also cause increased risk of behavioral problems and mental illness in affected people. The other genes that are deleted likely contribute to the various features of 22q11.2 deletion syndrome.[1]
Last updated: 1/29/2014

References
  1. 22q11.2 deletion syndrome. Genetics Home Reference. July, 2013; http://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome. Accessed 1/29/2014.


Other Names for this Disease
  • Autosomal dominant Opitz G/BBB syndrome
  • CATCH22
  • Cayler cardiofacial syndrome
  • Chromosome 22q11.2 deletion syndrome
  • Conotruncal anomaly face syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.