2q34 Duplication

Below is a summary for 2q34 duplication syndrome observed in research publications. This is not meant to take the place of medical advice.

What is 2q34 duplication syndrome?

2q34 duplication syndrome happens when a person has an extra piece of chromosome 2, 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.


Because the 2q34 region is important for the proper function of the body’s cells, some people may have:

  • Developmental delay
  • Autism

Do people who have 2q34 duplication syndrome look different?

2q34 duplication syndrome is very rare, and it is unknown if people with this condition look different.


Support Resources

Simons Searchlight Community – 2q34 Duplication Facebook group



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 2q34 Duplications.


Research Article Summaries

We currently do not have any article summaries for 2q34 Duplications, but we add resources to our website as they become available.

The information available about 2q34 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 2q34 Duplication articles can be found here.


Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about 2q34 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 2q34 Duplication families.

Click here to share your family’s story!