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

  • STATUS
    Recruiting
  • End date
    Jul 29, 2027
  • participants needed
    1000
  • sponsor
    Albert Einstein College of Medicine
Updated on 4 October 2022
genetic disorder
congenital heart defect
learning disabilities

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.

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.

Details
Condition DiGeorge Syndrome, 22q11.2 Deletion Syndrome
Clinical Study IdentifierNCT00556530
SponsorAlbert Einstein College of Medicine
Last Modified on4 October 2022

Eligibility

Yes No Not Sure

Inclusion Criteria

Has 22q11 deletion of 3 megabases (Mb)

Exclusion Criteria

Has 22q11 deletion smaller than 3 Mb or no deletion
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