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

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

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