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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
More Names
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Overview


22q11.2 deletion syndrome is a spectrum disorder encompassing what was formerly called DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and cases of Opitz G/BBB syndrome, and Cayler cardiofacial syndrome.[1]  It is characterized by a variety of symptoms, including cleft palate, heart defects, unique facial characteristics, learning and feeding problems, immune system disorders, hypoparathyroidism, and scoliosis.[2] Symptoms can vary greatly from patient to patient. It is caused by a missing piece (deletion) of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2.[1] Click here to view a diagram of chromosome 22.

References

  1. 22q11.2 deletion sydrnome. Genetic Home Reference. http://ghr.nlm.nih.gov/condition=22q112deletionsyndrome . Accessed June 25, 2008.
  2. Velocardiofacial syndrome. National Institute on Deafness and other Communication Disorders (NIDCD). http://www.nidcd.nih.gov/health/voice/velocario.asp. Accessed June 25, 2008.
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General Information

  • Genetics Home Reference (GHR) contains information on 22q11.2 deletion syndrome. Click on the link to go to GHR and review the information.
  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss 22q11.2 deletion syndrome. Click on the link to view a sample search on this topic.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss 22q11.2 deletion syndrome. Click on the link to go to OMIM and review these resources.