Below is a summary for 17q12 duplication syndrome observed in research publications. This is not meant to take the place of medical advice.
What is chromosome 17q12 duplication syndrome?
17q12 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 17q12 region is important for the proper function of the body’s cells, some people may have:
- Intellectual disability
- Developmental delay
- Brain changes seen on magnetic resonance imaging (MRI)
- Speech delays
- Self-injury behavior
- Low muscle tone
- Gross motor delay
- Hormone issues
- Heart and kidneys issues
Do people who have 17q12 duplication syndrome look different?
People with 17q12 duplication syndrome may look different. Appearance can vary and can include some but not all of these features:
- Smaller than average head size
- Eye defects
How many people have 17q12 duplication syndrome?
As of 2021, about 90 people with 17q12 duplication syndrome have been described in medical research. But, the majority of people carrying a 17q12 duplication do not have any symptoms, which makes it difficult to know how common this condition is.
Research Article Summaries