Below is a summary of 15q15 deletion syndrome observed in research publications. This is not meant to take the place of medical advice.
What is 15q15 deletion syndrome?
15q15 deletion syndrome happens when a person is missing a piece of chromosome 15, one of the body’s 46 chromosomes. Chromosomes are structures in our cells that house our genes. The missing piece can affect learning and how the body develops.
Because the 15q15 region is important for the proper function of the body’s cells, some people may have:
- Intellectual disability
- Developmental delay
- Low muscle tone
- Gastrointestinal reflux and feeding issues
- Sideways curvature of the spine, also called scoliosis
- Brain changes seen on magnetic resonance imaging (MRI)
- Minor genital defects
- Vision issues
- Speech difficulties
- Learning difficulties
Do people who have 15q15 deletion syndrome look different?
People with 15q15 deletion syndrome may look different. Appearance can vary and can include some but not all of these features:
- Beaked or prominent nose
- Small lower jaw
- Thin upper lip
- Long slender fingers
- Thin body type and tall height
How many people have 15q15 deletion syndrome?
15q15 deletion syndrome is very rare, and the number of people who have it is unknown.
Research Article Summaries