Below is a summary for the 15q13.3 Deletion observed in research publications. This is not meant to take the place of medical advice.
What is 15q13.3 microdeletion syndrome?
Chromosome 15q13.3 microdeletion syndrome can affect the development of communication, social, and learning skills. It can affect how a person acts or interacts with others.
The 15q13.3 region on chromosome 15 includes seven genes. Researchers are still trying to learn more about what the genes in this region do. One study suggests that one of the genes deleted in chromosome 15q13.3 microdeletion syndrome, called OTUD7A, is important for brain function.
Many people who have chromosome 15q13.3 microdeletion syndrome have:
- Developmental delay, or intellectual disability, or both
- Autism spectrum disorder or features of autism
- Other behavior issues including attention deficit hyperactivity disorder, also called ADHD, aggression, and rage
- Seizures or abnormal electroencephalogram, also called EEG, results; an electroencephalogram is a test that measures the brain’s electrical activity
- Speech and language delay
Behavior, development, and medical concerns linked to chromosome 15q13.3 microdeletion syndrome:
- Behavior: Many people have autism, features of autism, or behavior issues.
- Speech: Many people have speech impairments.
- Learning: Most people show some intellectual disability, ranging from mild to severe. Most people need special educational support.
- Mental health: People who have chromosome 15q13.3 microdeletion syndrome can have hyperactivity and attention issues.
- Brain: About one-quarter of people who have the syndrome have seizures. The age at which people had their first seizure varied.
- Motor skills: Some people who have chromosome 15q13.3 microdeletion syndrome show delays in the development of hand movement skills and larger movement skills.
Research Article Summaries