Below is a summary for 17q11.2 duplication syndrome observed in research publications. This is not meant to take the place of medical advice.
What is 17q11.2 duplication syndrome?
17q11.2 duplication syndrome happens when a person has an extra piece of chromosome 17, 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.
Because the 17q11.2 region is important for the proper function of the body’s cells, some people may have:
- Failure to thrive
- Large testicles in males
- Motor delay
- Speech delay
- Intellectual disability
Do people who have 17q11.2 duplication syndrome look different?
People with 17q11.2 duplication syndrome may look different. Appearance can vary and can include some but not all of these features:
- Shorter than average height
- Smaller than average head size
- Long face
- Thin upper lip
- Early onset baldness
- Loss of tooth enamel
How many people have 17q11.2 duplication syndrome?
As of 2022, about 48 people with 17q11.2 duplication syndrome have been described in medical research.
Research Article Summaries