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Синдром дуплікації 14q32

ORPHA:488280· ICD-10 Q92.3· 14q32 duplication syndrome

Визначення(English summary)

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 especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed.

Поширеність
<1 / 1 000 000
Вік початку
Adult