Below is a summary for 7q11.23 duplication observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.
LATEST REGISTRY REPORT
Download the latest quarterly report here. The goal of this report is to share up-to-date data contributed by families. Building off the last report, the team used the Quality of Life Inventory to ask caregivers to describe how their family member with 7q11.23 duplication responds to life experiences. This survey and other important tasks are located on your dashboard. Participating in surveys is very important to the longevity of our study. Your unique experience could hold the clues that scientists need to find answers for you and others with rare genetic disorders. 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.”
VOICE OF THE COMMUNITY REPORT
Download the Voice of the Community report here. The Simons Searchlight team is happy to share the results from a special survey called The Simons Searchlight Voice of the Community. The results include specific data and information about your community. We extend a big thank you to everyone who contributed their unique information and insight. We couldn’t have done this without you.
What is 7q11.23 duplication syndrome?
7q11.23 duplication syndrome can affect communication, social, and learning skills. People who have 7q11.23 duplication syndrome may have:
- Distinct facial features
- Speech delay
- Behavior issues, including anxiety, attention deficit hyperactivity disorder, and autism
- Developmental delay
What causes 7q11.23 duplication syndrome?
7q11.23 duplication syndrome happens when someone has an extra piece of chromosome 7, one of the body’s 46 chromosomes. Chromosomes are structures in our cells that house our genes.
Do all people who have 7q11.23 duplication syndrome have symptoms?
Not necessarily. Some people do not have any symptoms. Some people may not learn that they have this genetic change until it is found in their children.
Do people who have 7q11.23 duplication syndrome look different?
People who have 7q11.23 duplication syndrome may look different. Appearance can vary and can include some but not all of these features:
- Wide, flat head shape
- Wide forehead
- Straight eyebrows
- Deep-set eyes
- Long eyelashes
- Wide-tipped nose
Almost three-quarters of people who have 7q11.23 duplication syndrome have difficulty or delay in learning motor skills, also called developmental coordination disorder.
Almost one-half have heart issues,, most often a large artery,, also known as dilation of the ascending aorta.
Almost all young children who have 7q11.23 duplication syndrome have speech delay or other speech issues.
Learn more about 7q11.23 Duplication and connect with other Simons Searchlight families with the resources below.
Research Article Summaries