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

Genetic Modifiers of 22q11.2 Deletion Syndrome

Who can join

All ages · All sexes

Inclusion Criteria:

* Has 22q11 deletion of 3 megabases (Mb)

Exclusion Criteria:

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

About the study

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.

Sponsor: Albert Einstein College of Medicine · Participants: 1,000 · Started: 2016-07

Contact the study team

• Bernice E. Morrow, PhD · Phone: 914-329-4653

Official record on ClinicalTrials.gov — NCT00556530

Locations in the U.S.

Conditions

• Congenital Heart Defects

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.