5q35 Duplication

Below is a summary for 5q35 microduplication syndrome observed in research publications. This is not meant to take the place of medical advice.

What is 5q35 microduplication syndrome?

5q35 microduplication 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.

Sometimes 5q35 microduplication syndrome is called reversed Sotos syndrome.


Because the 5q35 region is important for the proper function of the body’s cells, some people may have:

  • Developmental delay
  • Intellectual disability
  • Learning disability
  • Delayed bone maturation
  • Feeding difficulties
  • Speech and language delay
  • Eczema
  • Seizures
  • Problems with vision or eye defects
  • Hernias
  • Loose joints
  • Frequent ear infections

Do people who have 5q35 microduplication syndrome look different?

People with 5q35 microduplication syndrome may look different. Appearance can vary and can include some but not all of these features:

  • Smaller than average head size
  • Shorter than average height
  • Small jaw
  • Dental issues

How many people have 5q35 microduplication syndrome?

As of 2022, about 40 people with 5q35 microduplication syndrome have been described in medical research.


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 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

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