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.
Simons Searchlight just released a new report that includes updated information on your genetic community. The report also focuses on development using a survey called the Vineland Adaptive Behavior Scales. Caregivers share how their family members with our genetic condition respond to different skills like communication, self-care, and social skills. This survey helps doctors and researchers understand how our skills change over time.
If you want to help contribute to this research, it’s important to participate in surveys. To view past registry reports and learn more, go to the Simons Searchlight website and click on “Previous Registry Reports.”
Join Simons Searchlight today to be included in future reports!
What is 7q11.23 duplication syndrome?
7q11.23 duplication syndrome can affect communication, social, and learning skills. 7q11.23 duplication syndrome is also known as Williams-Beuren Region Duplication Syndrome. 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.
- Simons Searchlight Community – 7q11.23 Duplication Facebook group
- Duplication Cares 7q11.23 – Website
- Duplication Cares 7q11.23 – Facebook page
- Duplication Cares 7q11.23 – Twitter
- Unique – 7q11.23 Duplication Guidebook
Gene Reviews 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. Check out the GeneReviews for 7q11.23 Duplication.
Research Article Summaries
We currently do not have any article summaries for 7q11.23 Duplication, but we add resources to our website as they become available. The information available about 7q11.23 Duplication 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 7q11.23 Duplication articles can be found here. You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
Help the Simons Searchlight team learn more about 7q11.23 Duplication genetic changes by taking part in our research. You can learn more about the project and sign up here.
External Research Opportunity: FaceMatch
FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.