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

What causes trisomy 5q (chromosome 5q duplication)?

Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation.

What are the treatments for trisomy 5q (or chromosome 5q duplication)?

Unfortunately, there is currently no cure or treatment for this condition besides symptom management.

Where can I find out more about trisomy 5q (chromosome 5q duplication)?

• NIH
• Naylah’s Story