Below is a summary for the 17q12 duplication observed in research publications. This is not meant to take the place of medical advice. The full gene guide, which includes more information, coming soon.
What is chromosome 17q12 duplication syndrome?
Chromosome 17q12 duplication syndrome can have variable effects on the development of communication, social, and learning skills. It can affect how a person acts or interacts with others. Many people who have 17q12 duplication syndrome have:
- Intellectual disability
- Speech delay
Do people who have 17q12-duplication syndrome look different?
Some people who have 17q12 duplication syndrome have minor changes in their appearance, such as a flat forehead, a low hairline, thick eyebrows, and thick lips.
Research Article Summaries