14q32 duplication syndrome

Orpha code: 488280OMIM code: 616604

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.

Disease data
Classification

Disease

Synonyms
Dup(14)q(32)
Dup(14)q(32)
Trisomia 14q32
Predyspozycja do nowotworu mieloproliferacyjnego wieku dorosłego z powodu duplikacji 14q32
Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication
Trisomy 14q32
ORPHA code
488280
OMIM code
616604
ICD10 code
D47.1
ICD11 code
-

No additional description.

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