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.
Click here for our full Xq28 Duplication Gene Guide
The online Gene Guide includes more information about Xq28 duplication such as the chance of having another child with this condition, behavior and development concerns linked to Xq28 duplication syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
What is Xq28 duplication syndrome?
Xq28 duplication syndrome happens when a person has an extra piece of the X chromosome, 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 Xq28 region are important for brain development and function.
Symptoms
Because the Xq28 region is important for brain activity, many people who have Xq28 duplication syndrome have:
- Intellectual disability
- Aggression and irritability
- Attention-deficit/hyperactivity disorder (ADHD)
- Autism
- Anxiety
- Difficulty sleeping, insomnia
- Recurring ear infections
- Asthma
- Obesity
How many people have Xq28 duplication syndrome?
As of 2025, about 82 people with Xq28 duplication syndrome, and more than 600 people with MECP2 duplication syndrome, have been described in medical research.
Support Resources
- Simons Searchlight Community – Xq28 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. Check out the 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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