5q– syndrome

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A myelodysplasia characterized by a defect in erythroid differentiation in which there is a deletion of the long arm of chromosome 5 containing ˜40 genes. The key deletion is that for the gene encoding ribosomal subunit protein RPS14, although several genes encoding cytokines or their receptors have been mapped to this region (αFGF, GM-CSF, IL-3, IL-4, IL-5, IL-9, both subunits of IL-12, the gene encoding IRF1 (interferon regulatory factor-1) and the genes encoding the receptor for M-CSF and PDGF, and the FGF receptor, FGFR4).

Subjects: Medicine and Health.

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