Below is a summary for the 17p11.2 Duplication observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.
What is 17p11.2 Duplication Syndrome or Potocki-Lupuski Syndrome?
Potocki-Lupski syndrome affects communication, social, and learning skills. Potocki-Lupski syndrome is also known as 17p11.2 duplication syndrome.
People who have Potocki-Lupski syndrome may have:
- Developmental delay
- Intellectual disability
- Attention issues
- Low muscle tone
- Difficulty swallowing
- Failure to thrive
- Heart issues
Do people who have 17p11.2-duplication syndrome look different?
People who have Potocki-Lupski syndrome may have slight changes in their facial features.
How many people have Potocki- Lupski syndrome?
About 1 in 25,000 people have Potocki-Lupski syndrome. The first case was found in 2007. There are likely many more undiagnosed people who have the syndrome. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
Almost everyone who has the syndrome has speech delay. Speech skills may improve with age and speech therapy.
Most people have moderate intellectual disability.
Attention issues, hyperactivity, and anxiety are common. Some people who have the syndrome have autism. One small study estimated that about 60 percent of people have autism.
Research Article Summaries