14q32 duplication syndrome
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.
MONDO:0020076
myeloproliferative neoplasm
excluded_subClassOf
MONDO:0016964
partial duplication of the long arm of chromosome 14
is_a
dup(14)q(32)
exact
predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication
exact
trisomy 14q32
exact