16p11.2 Triplication

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.

Symptoms

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.

Support Resources

Simons Searchlight Community – 16p11.2 Triplication Facebook group

GeneReviews

GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

There is currently no GeneReviews for 16p11.2 Triplication.

Research Article Summaries

We currently do not have any article summaries for 16p11.2 Triplication, but we add resources to our website as they become available.

The information available about 16p11.2 Triplication is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.

Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for 16p11.2 Triplication articles can be found here.

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about 16p11.2 Triplication genetic changes by taking part in our research. You can learn more about the project and sign up here.

Family Stories

We do not currently have any stories from 16p11.2 Triplication families.

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