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

Rutgers The State University of New Jersey

Status: Enrolling

Conditions: Microduplication 3q29 Syndrome; Microdeletion 3q29 Syndrome

Study type: Observational

Funder types: Other

Identifiers

NCT02447861

Pro2021001976

Details and patient eligibility

About

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.

Full 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.

Enrollment: 800 estimated patients

Sex: All

Volunteers: Accepts Healthy Volunteers

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

Trial design

800 participants in 4 patient groups

3q29 deletion

Description:

Individuals with 3q29 deletion syndrome (sometimes called "3q29 micro deletion")

3q29 duplication

Description:

Individuals with 3q29 duplication syndrome (sometimes called "3q29 micro duplication")

Parents

Description:

parents of individuals with the 3q29 deletion or 3q29 duplication

Healthy Controls

Description:

Unrelated age-matched controls without 3q29 deletion or duplication