Below is a summary for 16p11.2 triplication syndrome observed in research publications. This is not meant to take the place of medical advice.
What is 16p11.2 triplication syndrome?
16p11.2 triplication syndrome happens when a person has two extra pieces of chromosome 16, one of the body’s 46 chromosomes. Chromosomes are structures in our cells that house our genes. These extra pieces can affect learning and how the body develops.
People with 16p11.2 triplication syndrome might have an increased risk for developmental problems, including autism. Depending on what genetic information is added, a person’s health, learning, and behavior might be affected. The information available about 16p11.2 triplication syndrome is limited, and families and doctors share a critical need for more information. Simons Searchlight participants are helping doctors and scientists to learn more about the effects of a 16p11.2 triplication.
Research Article Summaries