14q32 duplication syndrome

From BugSigDB


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.
Aliases
  • chromosome 14q32 DUPLICATION syndrome, 700-KB
  • dup(14)q(32)
  • myeloproliferative neoplasms, familial, susceptibility to
  • predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication
  • trisomy 14q32