The 3q29 deletion syndrome is when a small part of chromosome 3 is missing, while the 3q29 duplication syndrome is when there is an extra part of chromosome 3. Chromosomes are structures in our cells that hold our genetic information. Sometimes, babies are born with these changes even if their parents don’t have them, which is called de novo (or new) abnormalities. The purpose of this study is to understand how these syndromes affect people medically and behaviorally.
- Participation: If you have been diagnosed with 3q29 deletion or duplication, you can join. We need consent from parents or guardians, or from adults who don't need a guardian.
- Exclusions: If you have a significant medical condition that affects study procedures, you cannot participate.
- Study Goal: To understand the effects of 3q29 syndromes on health and behavior.
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