22q11.2 deletion syndrome

Overview

What is 22q11.2 deletion syndrome?

22q11.2 deletion syndrome is a genetic condition that can cause heart defects, learning disabilities, recurrent infections, openings in the roof of the mouth (cleft palate), hearing loss, low calcium levels, and other health concerns.The condition is caused by a deletion of a small piece of genetic information, specifically a piece of the long arm (called the "q") on the 22nd chromosome at a location designated as 22q11.2. Individuals can be affected differently and individuals within the same family can have a difference in the severity of symptoms and health concerns.

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Are there other names for 22q11.2 deletion syndrome?

How common is 22q11.2 deletion syndrome?

Are there other names for 22q11.2 deletion syndrome?

22q11.2 deletion syndrome has many other names. You may also hear it called

  1. Shprintzen syndrome
  2. CATCH22
  3. Sedlackova syndrome
  4. Cayler cardiofacial syndrome
  5. conotruncal anomaly face syndrome (CATF)
  6. autosomal dominant Opitz G/BBB syndrome
  7. 22q11.2 DS
  8. DiGeorge syndrome
  9. velocardiofacial syndrome (VCFS)
  10. 22q deletion

The most common names used by doctors and nurses are

  1. 22q deletion
  2. DiGeorge
  3. Velocardiofacial

If it is not clear what name doctors and nurses will be using or the patient prefers a certain name, it is okay to ask them about name use. To understand more about the history of the different names for 22q11.2 deletion syndrome, visit the Children's Hospital of Philadelphia webpage (History of 22q11) webpage or the 22q11 Deletion International Foundation' s Same Name Campaign webpage.

References
How common is 22q11.2 deletion syndrome?

It is estimated that around 1 in every 2000 to 1 in every 4000 babies are born with 22q11.2 deletion syndrome. However, it is believed that this may be an underestimate as individuals with mild symptoms may remain undiagnosed.

References

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