3q29 Deletion Syndrome is when a small part of chromosome 3 is missing in humans. The 3q29 Duplication Syndrome is when this part is duplicated or appears twice. Chromosomes are tiny structures in our cells that carry genetic information from our parents. Sometimes these changes happen even if the parents have normal chromosomes. This is called de novo changes, which means "new" changes.
The study aims to learn about the medical and behavioral effects of these syndromes. People who have a diagnosis of these conditions or their healthy siblings can participate. Parents or guardians must give permission if the participant is a child. If you have other serious health problems, you might not be able to join.
- The study observes the effects of 3q29 syndromes on health and behavior.
- Participants can include both affected individuals and their healthy siblings.
- Parental or guardian consent is needed for minors.
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