14q32 duplication syndrome
ORPHA:488280· ICD-10 Q92.3
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 especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Adult