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.

Access the Full 7q11.23 duplication Gene Guide

The online Gene Guide includes more information about 7q11.23 duplication such as the chance of having another child with this condition, behavior and development concerns linked to 7q11.23 duplication syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

Latest Registry Report Download Report

The latest Simons Searchlight report includes updated information on your genetic community and features a special spotlight on behavioral and emotional concerns in children using results from the Child Behavior Checklist (CBCL).

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View all reports below by clicking on “Previous Registry Reports” at the bottom of this page.

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.

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:

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Previous Registry Reports

Sources and References

The content in this guide comes from published studies about 7q11.23 duplication syndrome. Below you can find details about each study, as well as links to summaries or, in some cases, the full article.

Sanders SJ. et al. Neuron, 70, 863-885, (2011). Multiple recurrent de novo copy number variations (CNVs), including duplications of the 7q11.23 Williams-Beuren syndrome region, are strongly associated with autism
www.ncbi.nlm.nih.gov/pmc/articles/PMC3939065
Mervis CB. et al. GeneReviews, (2015). 7q11.23 duplication syndromewww.ncbi.nlm.nih.gov/books/NBK327268