partial duplication of the long arm of chromosome 6
Findings
No curated finding names partial duplication of the long arm of chromosome 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Chromosome 6q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 6. 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 6q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. In most cases, chromosome 6q duplication occurs de novo or is inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Rarely, it is inherited from a parent with the same duplication. Treatment is based on the signs and symptoms present in each person.
Definition from the Mondo Disease Ontology (MONDO:0016957), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
- Narrower terms (1)
Other names
4 names
Resolves to: partial duplication of the long arm of chromosome 6
- Also called
- partial duplication of chromosome 6qpartial duplication of the long arm of chromosome type 6partial trisomy of chromosome 6qpartial trisomy of the long arm of chromosome 6