What does it mean to have a 16p11.2 duplication?
Genes provide our body’s instructions. Our body carries genes in structures called chromosomes. We have two copies of each chromosome, one from the birth father and one from the birth mother. Sometimes people are born with extra or missing sections of chromosomes. Extra or missing genetic material can impact health, learning, and behavior. The effects vary based on the location and size of the changes and what the genes there do.
People with 16p11.2 duplications have an extra section in one of their two chromosome 16s.
People with 16p11.2 duplications appear to have an increased risk for developmental problems, including autism. Depending on what genetic information is added, the addition can impact a person’s health, learning, and behavior.
The information available about 16p11.2 duplications is limited, and families and doctors share a critical need for more information. Simons Searchlight participants help doctors and scientists find new information about the effects of 16p11.2 duplications.
Learn more about 16p11.2 Duplications and connect with other Simons Searchlight families with the resources below:
Research Article Summaries