Learn more about 16p11.2 Duplication and connect with other Simons Searchlight families with the resources below.
LATEST REGISTRY REPORT
Download the latest quarterly report here. The goal of this report is to share up-to- date data contributed by families. The new report features information from the Children’s Sleep Habits Questionnaire (CSHQ). The CSHQ is a survey that you fill out on your dashboard. If you want to be included in future reports, join Simons Searchlight today!
To view past registry reports go to the bottom of this page and click on the dropdown menu tab labeled “Previous Registry Reports.”
What does it mean to have a 16p11.2 duplication?
Sometimes people are born with extra or missing sections of chromosomes. 16p11.2 duplication syndrome happens when someone has an extra piece of chromosome 16, one of the body’s 46 chromosomes. Chromosomes are structures in our cells that house our genes.
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.
Research Article Summaries
Previous Registry Reports