7q11.23 Duplication

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. Sharing your information 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. 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

MOVEMENT

Almost three-quarters of people who have 7q11.23 duplication syndrome have difficulty or delay in learning motor skills, also called developmental coordination disorder.

HEART

Almost one-half have heart issues,, most often a large artery,, also known as dilation of the ascending aorta.

SPEECH

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.

Support Resources

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

GeneReviews

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.

Research Opportunities

Simons Searchlight

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.

Family Stories

Stories from 7q11.23 Duplication families:

Click here to share your family’s story!

Previous Registry Reports