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Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome

RECRUITINGSponsored by Albert Einstein College of Medicine
Actively Recruiting
SponsorAlbert Einstein College of Medicine
Started2016-07
Est. completion2029-06
Eligibility
Healthy vol.Accepted
Locations1 site
View on ClinicalTrials.gov →

NCT00556530

Summary

22q11.2 deletion syndrome is a genetic disorder that can cause heart defects, facial abnormalities, and developmental and learning disabilities. The severity of the disorder can vary widely among people. This study will analyze DNA from people with 22q11.2 deletion syndrome to identify genetic variations that may affect the severity of the disorder.

Eligibility

Healthy volunteers accepted
Inclusion Criteria:

* Has 22q11 deletion of 3 megabases (Mb)

Exclusion Criteria:

* Has 22q11 deletion smaller than 3 Mb or no deletion

Conditions3

22q11.2 Deletion SyndromeDiGeorge SyndromeHeart Disease

Locations1 site

Albert Einstein College of Medicine
New York, New York, 10461
Bernice E. Morrow, PhD

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