5q35 Deletion

Learn more about 5q35 Deletion and connect with other Simons Searchlight families with the resources below.


Support Resources



GeneReviews 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.

Sotos syndrome (the GeneReviews linked below) is caused by an NSD1 abnormality, and this gene is usually affected by a 5q35 microdeletion.

Check out the GeneReviews for Sotos syndrome.


Research Article Summaries

We currently do not have any article summaries for 5q35 Deletion, but we add resources to our website as they become available.

The information available about 5q35 Deletion 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 5q35 Deletion 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 5q35 Deletion genetic changes by taking part in our research. You can learn more about the project and sign up here.


Family Stories

We do not currently have any stories from 5q35 Deletion families.

Click here to share your family’s story!