Xp11.22 Duplication
The information for this summary of Xp11.22 duplication syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full Xp11.22 Duplication Syndrome Gene Guide
The online Gene Guide includes more information about Xp11.22 duplication such as the chance of having another child with this condition, behavior and development concerns linked to Xp11.22 duplication syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
Xp11.22 duplication syndrome is also called Xp11.22 microduplication syndrome. For this webpage, we will be using the name Xp11.22 duplication syndrome to encompass the wide range of variants observed in the people identified.
What is Xp11.22 duplication syndrome?
Xp11.22 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.
There are several genes within the Xp11.22 region that are involved in intellectual disability. This condition usually affects males and rarely affects female carriers.
Key Role
Genes within the Xp11.22 region are important for brain development and function.
Symptoms
Because genes in the Xp11.22 region are important in brain development and function, many people who have Xp11.22 duplication syndrome have:
- Developmental delay
- Intellectual disability
- Motor delay
- Delayed speech and language development
- Husky or nasal voice
- Obesity
- Early puberty
- Seizures
- Autism
- Attention-deficit/hyperactivity disorder (ADHD)
- Constipation
How many people have Xp11.22 duplication syndrome?
As of 2025, over 41 people with Xp11.22 duplication syndrome have been described in medical research.
Support Resources
- Simons Searchlight Community – Xp11.22 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 Xp11.22 Duplication.
Research Article Summaries
We currently do not have any article summaries for Xp11.22 Duplication, but we add resources to our website as they become available.
The information available about Xp11.22 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 Xp11.22 Duplication articles can be found here.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about Xp11.22 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 Xp11.22 Duplication families.
Click here to share your family’s story!