partial trisomy of the long arm of chromosome 5
Findings
No curated finding names partial trisomy of the long arm of chromosome 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 5q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.
Definition from the Mondo Disease Ontology (MONDO:0016956), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
4 names
Resolves to: partial trisomy of the long arm of chromosome 5
- Also called
- partial duplication of chromosome 5qpartial duplication of the long arm of chromosome 5partial trisomy of chromosome 5qpartial trisomy of the long arm of chromosome type 5