9q34 Duplication

Below is a summary for 9q34 duplication observed in research publications. This is not meant to take the place of medical advice.

What does the 9q34 duplication do?

9q34 duplication syndrome can affect communication, social, and learning skills. People who have 9q34 duplication syndrome may have:

  • Intellectual disability
  • Developmental delay
  • Autism

How many people have a de novo gene change in 9q34 duplication?

As of 2020, doctors had found about 20 people who have 9q34 duplication syndrome. The first case was found in 1983. There are likely many more undiagnosed people who have the syndrome. Scientists expect to find more people who have the syndrome as access to genetic testing improves.

How are people who have changes in 9q34 duplication treated?

A developmental pediatrician, neurologist, or psychologist can follow progress over time and can help:

  • Suggest the right therapies. This can include physical, occupational, speech, or behavioral therapy.
  • Guide individualized education plans (IEPs).

Specialists advise that therapies for 9q34 duplication syndrome should begin as early as possible, ideally before a child begins school.

If seizures happen, consult a neurologist. There are many types of seizures, and not all types are easy to spot. To learn more, you can refer to resources such as the Epilepsy Foundation’s website: http://www.epilepsy.com/learn/types-seizures.

Do people who have de novo changes in the 9q34 Duplication gene look different?

People who have 9q34 duplication syndrome do not look different.

Learn more about the 9q34 Duplication 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.

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.

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