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3q29 Deletion and Duplication Syndrome Phenotypes

January 3, 2022 - November 30, 2023

The information we receive from healthy, typically developing children, teens, and adults could help us learn more information about the characteristics associated with 3q29 syndromes. The information we learn from our control group comparison utilizing MRI scans will help us gain insight into how the brain processes social information to 3q29 syndromes that are associated with increased risk for several developmental disabilities. As a token of our appreciation, participates can receive a monetary compensation of $50 for the MRI scans, $15 for MRI training, a souvenir picture of yours or your child’s brain, and feedback about your child’s performance from the clinical assessments.

What are the goals of the study?

This study is part of a larger medical research study to help us learn more about how the brain functions, especially when processing social information. We will do this by using magnetic resonance imaging (MRI). The information we learn from healthy, typically developing individuals will help us to understand the characteristics associated with 3q29 syndromes, which are rare genetic disorders that are associated with increased risk for developmental disabilities including autism, intellectual disability, learning disabilities, epilepsy, and schizophrenia.

What will happen during the visit or online?

The study will take place at the Marcus Autism Center and our imaging center, which is located at Wesley Woods on the Emory Campus. Participants will be asked to receive training on what to expect during an MRI scan, watch videos while resting in the MRI scanner, and receive clinical assessments which involve completing games and activities related to language and thought.

How will this help families?

Our mission is to learn more about 3q29 Deletion Syndrome and 3q29 Duplication Syndrome, and improve the quality of care for individuals with this diagnosis. Because the 3q29 Deletion and 3q29 Duplication are so rare, it is difficult for medical practitioners, families, and individuals to know what to expect. Our goal is to create a resource for families and professionals to address this gap in knowledge.

Eligibility Criteria

Children, teens, and adults

View the study flyer here.

Contact Information

Sydney Messer – sydney.messer@choa.org

Research Study Website
Marcus Autism Center