17q12 Deletion

Below is a summary for the 17q12 deletion syndrome gene observed in research publications. This is not meant to take the place of medical advice.

Click here for our full 17q12 deletion gene guide

The online Gene Guide includes more information about 17q12 deletion syndrome such as the chance of having another child with this condition, behavior and development concerns linked to 17q12 deletion syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

What is 17q12 deletion syndrome?

17q12 deletion syndrome can affect communication, social, and learning skills. Symptoms can vary widely in people who have 17q12 deletion syndrome, even among members of the same family with the same genetic change. Some people may have no noticeable symptoms.

What causes 17q12 deletion syndrome?

17q12 deletion syndrome is caused when someone is missing a small piece of chromosome 17, one of the body’s 46 chromosomes. Chromosomes are structures in our cells that house our genes.

Symptoms

17q12 deletion syndrome can affect communication, social, and learning skills. People who have 17q12 deletion syndrome may have:

  • Developmental delay, intellectual disability, or both
  • Behavior issues
  • Seizures
  • Small head, also known as microcephaly
  • Brain changes
  • Mild changes in facial features
  • Kidney issues

How many people have 17q12
deletion syndrome?

As of 2019, doctors had found more than 200 people who have 17q12 deletion syndrome. There are likely many more undiagnosed people who have the syndrome.

Learn more about the 17q12 Deletion and connect with other Simons Searchlight families with the resources below:

+

Support Resources

 

+

GeneReviews

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.

Check out the GeneReviews for 17q12 Deletions.

+

Research Article Summaries

We currently do not have any article summaries for 17q12 Deletion, but we add resources to our website as they become available.

The information available about 17q12 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 17q12 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 17q12 Deletion 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

We do not currently have any stories from 17q12 Deletion families.

Click here to share your family’s story!