partial duplication of the long arm of chromosome 4
Findings
No curated finding names partial duplication of the long arm of chromosome 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4. The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental delay, intellectual disability, behavioral problems, birth defects, and distinctive facial features. Most cases are inherited from an unaffected parent with a chromosomal rearrangement called a balanced translocation. Some cases are not inherited and occur sporadically. Treatment is based on the signs and symptoms present in each person.
Definition from the Mondo Disease Ontology (MONDO:0016955), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
- Narrower terms (2)
Other names
4 names
Resolves to: partial duplication of the long arm of chromosome 4
- Also called
- partial duplication of chromosome 4qpartial duplication of the long arm of chromosome type 4partial trisomy of chromosome 4qpartial trisomy of the long arm of chromosome 4