Atlanta, Georgia 30322


Purpose:

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.


Study summary:

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.


Criteria:

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


NCT ID:

NCT02447861


Primary Contact:

Principal Investigator
Jennifer Mulle, MHS, PhD
Emory University

Jennifer Mulle, MHS, PhD
Phone: 404-727-3042
Email: jmulle@emory.edu


Backup Contact:

N/A


Location Contact:

Atlanta, Georgia 30322
United States

Jennifer Mulle, MHS, PhD
Phone: 404-727-0406
Email: jmulle@emory.edu

Site Status: Recruiting


Data Source: ClinicalTrials.gov

Date Processed: November 22, 2017

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