Characterization of 3q29 Deletion Syndrome and 3q29 Duplication Syndrome



Status:Recruiting
Conditions:Cognitive Studies, Other Indications
Therapuetic Areas:Psychiatry / Psychology, Other
Healthy:No
Age Range:Any
Updated:1/27/2019
Start Date:July 2013
End Date:March 2021
Contact:Jennifer Mulle, MHS, PhD
Email:jmulle@emory.edu
Phone:404-727-3042

Use our guide to learn which trials are right for you!

Trial Summary
Trial Overview
Inclusion Criteria

Behavioral, Molecular and Genetic Characterization of 3q29 Deletion Syndrome and 3q29 Duplication Syndrome

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.

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.

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
We found this trial at
1
site
Internet-Based
Atlanta, Georgia 30322
Phone: 404-727-0406
?
mi
from
Atlanta, GA
Click here to add this to my saved trials