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
- Difficulty sleeping, insomnia
- Recurring ear infections
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.
Research Article Summaries