Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome
Recruiting
Observational Study
DiGeorge Syndrome
22q11.2 Deletion Syndrome
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Sex
- Any
- Study type
- Observational
- Participants needed
- 1,000 (estimated)
- Sponsor
- Albert Einstein College of Medicine · Other
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About This Trial
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.
Trial Locations
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Eligibility Criteria
Inclusion Criteria:
* Has 22q11 deletion of 3 megabases (Mb)
Exclusion Criteria:
* Has 22q11 deletion smaller than 3 Mb or no deletion
Contacts