14q32 duplication syndrome
Findings
No curated finding names 14q32 duplication syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed.
Definition from the Mondo Disease Ontology (MONDO:0014707), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Typified by incomplete penetrance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
3 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Acute myeloid leukemiaHPOHP:0004808
- Chronic myelomonocytic leukemiaHPOHP:0012325
- MyelofibrosisHPOHP:0011974
Where it sits
Other names
3 names
Resolves to: 14q32 duplication syndrome
- Also called
- dup(14)q(32)predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplicationtrisomy 14q32