NCT02447861RecruitingAccepts Healthy Volunteers

The 3q29 Deletion and 3q29 Duplication: Architecture of Behavioral Phenotypes

Rutgers, The State University of New Jersey

Start Date

7/1/2013

Completion Date

1/1/2028

Summary

The 3q29 deletion syndrome is caused by a deletion of a small part of human chromosome 3, and the duplication syndrome is caused by a duplication of this same small region. The purpose of this study is to understand the medical and behavioral consequences of these syndromes.

Detailed Description

People with 3q29 deletion syndrome are missing a small part of a region on human chromosome 3, and people with 3q29 duplication syndrome have an extra part of their chromosome 3. Sometimes babies are born with a deletion or duplication of part of human chromosome 3, even though their parents have an intact chromosome 3. This is called de novo (or new) abnormalities.

Eligibility Criteria

Age Range: No minimum to No maximum

Inclusion Criteria: * Diagnosis of 3q29 deletion or 3q29 duplication * Consent from parents or guardians or an adult with 3q29 deletion or 3q29 duplication that does not require a legal guardian or an adult who is the healthy sibling of an individual with 3q29 deletion or 3q29 duplication or a healthy age-matched control Exclusion Criteria: * Clinically significant medical disease that would prohibit participation in the study procedures

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Conditions

Microdeletion 3q29 SyndromeMicroduplication 3q29 Syndrome

Locations

Internet-Based

Piscataway, New Jersey 08854

United States