partial duplication of the short arm of chromosome 6
Findings
No curated finding names partial duplication of the short arm of chromosome 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Chromosome 6p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) 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 6p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. This condition can occur sporadically or be inherited from a parent who is either mildy affected (has the deletion) or carries a balanced translocation. Treatment is based on the signs and symptoms present in each person.
Definition from the Mondo Disease Ontology (MONDO:0016943), 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 short arm of chromosome 6
- Also called
- partial duplication of chromosome 6ppartial duplication of the short arm of chromosome type 6partial trisomy of chromosome 6ppartial trisomy of the short arm of chromosome 6