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.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/22q112-deletion-syndrome/overview/2441 • DATE UPDATED: 2019-04-01

References

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