Xq28 Duplication

Below is a summary for Xq28 duplication syndrome observed in research publications. This is not meant to take the place of medical advice.

What is Xq28 duplication syndrome?

Xq28 duplication syndrome happens when a person has an extra piece of the X chromosome. The extra piece can affect learning and how the body develops. This condition can affect males and females.


Because the Xq28 region is important for the proper function of the body’s cells, some people may have:

  • Intellectual disability
  • Aggression and irritability
  • Attention deficit hyperactivity disorder, also called ADHD
  • Autism
  • Anxiety
  • Difficulty sleeping, insomnia
  • Recurring ear infections
  • Asthma
  • Obesity

Do people who have Xq28 duplication syndrome look different?

People with Xq28 duplication syndrome may look different. Appearance can vary and can include some but not all of these features:

  • Long forehead
  • Thick and wide lower lip
  • Large ears

How many people have Xq28 duplication syndrome?

As of 2022, about 35 people with Xq28 duplication 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 Xq28 Duplication.


Research Article Summaries

We currently do not have any article summaries for Xq28 Duplication, but we add resources to our website as they become available.

The information available about Xq28 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 Xq28 Duplication articles can be found here.


Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about Xq28 Duplication genetic changes by taking part in our research. You can learn more about the project and sign up here.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.


Family Stories

We do not currently have any stories from Xq28 Duplication families.

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