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

Description

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.

Conditions

DiGeorge Syndrome, 22q11.2 Deletion Syndrome

Study Overview

Study Details

Study overview

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.

Genetic Modifiers of 22q11.2 Deletion Syndrome

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

Condition
DiGeorge Syndrome
Intervention / Treatment

-

Contacts and Locations

New York

Albert Einstein College of Medicine, New York, New York, United States, 10461

Philadelphia

Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States, 19139

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * Has 22q11 deletion of 3 megabases (Mb)
  • * Has 22q11 deletion smaller than 3 Mb or no deletion

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Albert Einstein College of Medicine,

Bernice E. Morrow, PhD, PRINCIPAL_INVESTIGATOR, Albert Einstein College of Medicine

Study Record Dates

2029-07