5q35 Duplication
The information for this summary of 5q35 duplication syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full 5q35 Duplication Gene Guide
The online Gene Guide includes more information about 5q35 duplication such as the chance of having another child with this condition, behavior and development concerns linked to 5q35 duplication or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
5q35 duplication syndrome is also called reversed Sotos syndrome. For this webpage, we will be using the name 5q35 duplication syndrome to encompass the wide range of variants observed in the people identified.
What is 5q35 duplication syndrome?
5q35 duplication syndrome happens when a person has an extra piece of chromosome 5, 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
Genes within the 5q35 region are important for brain development and function.
Symptoms
Because genes in the 5q35 region are important in brain development and function, many people who have 5q35 duplication syndrome have:
- Developmental delay
- Intellectual disability
- Learning disability
- Smaller than average head size , also called microcephaly
- Growth restriction
- Delayed bone development
- Feeding difficulties
- Speech and language delay
- Seizures
- Problems with vision or eye defects
- Hernias
- Loose joints
- Frequent ear infections
How many people have 5q35 duplication syndrome?
As of 2025, about 44 people with 5q35 duplication syndrome have been described in medical research.
Support Resources
- Simons Searchlight Community – 5q35 Duplication Facebook group
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 5q35 Duplication.
Research Article Summaries
We currently do not have any article summaries for 5q35 Duplication, but we add resources to our website as they become available.
The information available about 5q35 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 5q35 Duplication 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 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 5q35 Duplication families.
Click here to share your family’s story!