chromosome 5q deletion syndrome

A chromosomal deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has_material_basis_in somatic deletion of 1 allele of the RPS14, MIR145, MIR146A and/or DDX41 genes on c

A chromosomal deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has_material_basis_in somatic deletion of 1 allele of the RPS14, MIR145, MIR146A and/or DDX41 genes on chromosome 5q.

Signs and symptoms

• Erythroid hypoplasia
• Refractory macrocytic anemia
• Megakaryocyte nucleus hypolobulation
• Anemia of inadequate production
• Myelodysplasia

Also known as: 5q- syndrome, refractory macrocytic anemia due to 5q deletion; myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality