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14q32 duplication syndrome

Disease 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.

ORPHA:488280

  • Synonym(s):
    • Dup(14)q(32)
    • Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication
    • Trisomy 14q32
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Adult
  • ICD-10: -
  • OMIM: 616604
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

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