14q32 duplication syndrome
14q32 duplication syndrome
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.
Also known as dup(14)q(32), predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication, trisomy 14q32 — per MONDO