9q34 Duplication

The information for this summary of 9q34 duplication syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full 9q34 duplication Gene Guide

The online Gene Guide includes more information about 9q34 deletion syndrome such as the chance of having another child with this condition, behavior and development concerns linked to 9q34 deletion syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

9q34 duplication syndrome is also called 9q34 microduplication syndrome. For this webpage, we will be using the name 9q34 duplication syndrome to encompass the wide range of variants observed in the people identified. 

What is 9q34 duplication syndrome?

9q34 duplication syndrome happens when a person has an extra piece of chromosome 9, one of the body’s 46 chromosomes. Chromosomes are structures in our cells that house our genes. The extra piece can affect learning and how the body develops. 

Key Role

The 9q34 region helps to control other genes during brain development. 

Symptoms

Because the 9q34 region is important for brain activity, many people who have 9q34 duplication syndrome have: 

  • Developmental delay 
  • Intellectual disability 
  • Autism 
  • Hyperactivity 
  • Poor feeding 
  • Low muscle tone 
  • Speech and language issues 
  • Musculoskeletal defects

How many people have 9q34 duplication syndrome?

As of 2024, over 35 people with 9q34 duplication syndrome have been identified in medical research. The first case was found in 1983. There are likely many more undiagnosed people who have the syndrome. This includes people with a small 9q34 duplication(only one gene duplicated), and people with large duplications (several genes duplicated). 

Learn more about the 9q34 Duplication 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.

There is currently no GeneReviews for 9q34 duplication.

+

Research Article Summaries

We currently do not have any article summaries for 9q34 duplication, but we add resources to our website as they become available.

The information available about 9q34 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 9q34 duplication articles can be found here.

+

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about 9q34 duplication 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 9q34 duplication families.

Click here to share your family’s story!