Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome
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 affec
| Condition(s) | DiGeorge Syndrome, 22q11.2 Deletion Syndrome |
|---|---|
| Status | Recruiting |
| Study type | Observational |
| 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. |
| Who can participate | Inclusion Criteria: * Has 22q11 deletion of 3 megabases (Mb) Exclusion Criteria: * Has 22q11 deletion smaller than 3 Mb or no deletion |
| Sex | All |
| Lead sponsor | Albert Einstein College of Medicine |
| Locations | New York, New York, United States |
| Start date | 2016-07 |
| NCT ID | NCT00556530 |
| Official listing | https://clinicaltrials.gov/study/NCT00556530 |