Below is a summary for 17q21.3 duplication syndrome observed in research publications. This is not meant to take the place of medical advice.
What is 17q21.3 duplication syndrome?
17q21.3 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 17q21.3 region is important for the proper function the body’s cells, some people may have:
- Intellectual disability
- Speech and language delay
- Learning disability
- Low muscle tone
- Developmental delay
- Alzheimer’s disease around age 60
Do people who have 17q21.3 duplication syndrome look different?
People with 17q21.3 duplication syndrome do not look that different. Some people may have more body hair than average.
How many people have 17q21.3 duplication syndrome?
As of 2022, about 15 people with 17q21.3 duplication syndrome have been described in medical research. Some people with a 17q21.3 duplication do not have any symptoms, which makes it difficult to know how common this condition is.
Research Article Summaries