Trisomy 5q (Chromosome 5q duplication)
What is trisomy 5q (chromosome 5q duplication)?
Trisomy 5q is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5, hence why it is also known as chromosome 5q duplication. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved.What are the symptoms of trisomy 5q (chromosome 5q duplication)?
Features that often occur in people with chromosome 5q duplication include:- Developmental delay
- Intellectual disability
- Behavioral problems
- Facial features, including:
- Small head
- High forehead
- Large anterior fontanels
- Small jaw
- Low-set and malformed ears
- Widely spaced and slanting eyes