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

Genetic Modifiers of 22q11.2 Deletion Syndrome


  • Org Study ID: 1999-201
  • Secondary ID: R01HL084410
  • NTC ID: NCT00556530
  • Sponsor: Albert Einstein College of Medicine


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.


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.

  • Overall Status
    Active, not recruiting
  • Start Date
  • Phase
  • Study Type


Primary Outcome 1 - Measure:

Primary Outcome 1 - Timeframe: N/A


  • DiGeorge Syndrome
  • 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

Gender: All

Minimum Age: N/A

Maximum Age: N/A

Healthy Volunteers: No


Name: Bernice E. Morrow, PhD

Role: Principal Investigator

Affiliation: Albert Einstein College of Medicine, New York

Overall Contact

Name: Bernice E. Morrow, PhD

Phone: N/A

Email: N/A


Facility Status Contact