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

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.

Conditions

• DiGeorge Syndrome
• 22q11.2 Deletion Syndrome

Sponsors & Collaborators

• National Heart, Lung, and Blood Institute (NHLBI)

  collaborator NIH

• Children's Hospital of Philadelphia

  collaborator OTHER

• University of Geneva, Switzerland

  collaborator OTHER

• University of Toronto, Centre for Addiction and Mental Health (CAMH)

  collaborator UNKNOWN

• Bambino Gesù Children's Hospital IRCCS

  collaborator OTHER

• University of California, Los Angeles

  collaborator OTHER

• Cardiff University

  collaborator OTHER

• Universidad del Desarrollo

  collaborator OTHER

• Tel Aviv University

  collaborator OTHER

• KU Leuven

  collaborator OTHER

• Maastricht University

  collaborator OTHER

• The Coriell Institute

  collaborator UNKNOWN

• National Institute on Aging (NIA)

  collaborator NIH

• Albert Einstein College of Medicine

  lead OTHER

Principal Investigators

• Bernice E. Morrow, PhD · Albert Einstein College of Medicine

Eligibility

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2016-07-31

Primary Completion

2029-06-30

Completion

2029-06-30

Countries

• United States

Study Locations