Below is a summary for 5q35 microduplication syndrome observed in research publications. This is not meant to take the place of medical advice.
What is 5q35 microduplication syndrome?
5q35 microduplication syndrome happens when a person has an extra piece of chromosome 5, 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.
Sometimes 5q35 microduplication syndrome is called reversed Sotos syndrome.
Because the 5q35 region is important for the proper function of the body’s cells, some people may have:
- Developmental delay
- Intellectual disability
- Learning disability
- Delayed bone maturation
- Feeding difficulties
- Speech and language delay
- Problems with vision or eye defects
- Loose joints
- Frequent ear infections
Do people who have 5q35 microduplication syndrome look different?
People with 5q35 microduplication syndrome may look different. Appearance can vary and can include some but not all of these features:
- Smaller than average head size
- Shorter than average height
- Small jaw
- Dental issues
How many people have 5q35 microduplication syndrome?
As of 2022, about 40 people with 5q35 microduplication syndrome have been described in medical research.
Research Article Summaries