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

The recruitment status of this study is unknown because the information has not been verified recently.
Verified August 2009 by National Heart, Lung, and Blood Institute (NHLBI).
Recruitment status was  Recruiting
Information provided by:
National Heart, Lung, and Blood Institute (NHLBI) Identifier:
First received: November 8, 2007
Last updated: August 7, 2009
Last verified: August 2009

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.

DiGeorge Syndrome
22q11.2 Deletion Syndrome

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Genetic Modifiers of 22q11.2 Deletion Syndrome

Resource links provided by NLM:

Further study details as provided by National Heart, Lung, and Blood Institute (NHLBI):

Biospecimen Retention:   Samples With DNA

Blood and saliva samples

Estimated Enrollment: 1000
Study Start Date: August 2000
Estimated Study Completion Date: January 2011
Detailed Description:

22q11.2 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 22. Most people with this disorder are missing a sequence of about 3 million DNA building blocks on chromosome 22 within each cell. This disorder affects many areas of the body. People with 22q11.2 deletion syndrome may have heart defects, immune deficiency, kidney abnormalities, hearing loss, and cleft palate or other facial deformities. Many children experience developmental delays and learning disabilities, and they have an increased risk of developing mental illnesses, including schizophrenia, depression, anxiety, and bipolar disorder. All people with 22q11.2 deletion syndrome are missing the same sequence of DNA, but the severity of this disorder varies widely; some people are diagnosed with multiple health and developmental problems, while others experience very few symptoms. In some people, the symptoms may be so minimal that they are not even aware they have 22q11.2 deletion syndrome. This study will examine genetic material—either from blood or saliva—among people with 22q11.2 deletion syndrome. Participants will attend one study visit and undergo either blood or saliva collection. By analyzing the DNA sequences of participants, the study will aim to identify any genetic variations that may affect the severity of 22q11.2 deletion syndrome.


Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

People with 22q11.2 deletion syndrome


Inclusion Criteria:

  • Has 22q11 deletion of 3 megabases (Mb)

Exclusion Criteria:

  • Has 22q11 deletion smaller than 3 Mb or no deletion
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00556530

Contact: Bernice E. Morrow, PhD 718-678-1121

United States, New York
Albert Einstein College of Medicine Recruiting
New York, New York, United States, 10461
Principal Investigator: Bernice E. Morrow, PhD         
United States, Pennsylvania
Children's Hospital of Philadelphia Recruiting
Philadelphia, Pennsylvania, United States, 19139
Contact: Beverly S. Emanuel, PhD    215-590-3856   
Sponsors and Collaborators
Principal Investigator: Bernice E. Morrow, PhD Albert Einstein College of Medicine, New York
  More Information

No publications provided

Responsible Party: Bernice Morrow, Albert Einstein College of Medicine Identifier: NCT00556530     History of Changes
Other Study ID Numbers: 1390, R01 HL084410-01A1
Study First Received: November 8, 2007
Last Updated: August 7, 2009
Health Authority: United States: Federal Government

Keywords provided by National Heart, Lung, and Blood Institute (NHLBI):
Congenital Heart Defects
Single Nucleotide Polymorphisms
Copy Number Variations
Whole Genome Association Study

Additional relevant MeSH terms:
Cardiovascular Diseases
Chromosome Disorders
Congenital Abnormalities
Endocrine System Diseases
Genetic Diseases, Inborn
Heart Defects, Congenital
Heart Diseases
Lymphatic Diseases
Musculoskeletal Diseases
Parathyroid Diseases
DiGeorge Syndrome
22q11 Deletion Syndrome
Abnormalities, Multiple
Cardiovascular Abnormalities
Craniofacial Abnormalities
Lymphatic Abnormalities
Musculoskeletal Abnormalities
Pathologic Processes processed this record on March 31, 2015