/myelodysplastic syndrome associated with isolated del(5q)

myelodysplastic syndrome associated with isolated del(5q)

Rare Disease

MONDO:0007925

Also Known As

5Q minus syndrome5Q- syndrome5q- syndrome5q- syndrome, refractory macrocytic anaemia due to 5q deletion5q- syndrome, refractory macrocytic anemia due to 5q deletionchromosome 5q deletion syndromemacrocytic anemia, refractory, due to 5q deletion, somaticmyelodysplastic syndrome associated with isolated del (5q) chromosome Abnormalitymyelodysplastic syndrome associated with isolated del(5q) chromosome abnormalitymyelodysplastic syndrome with 5q deletionmyelodysplastic syndrome with isolated del(5q)5q deletion syndrome5q syndromeMARmacrocytic Anemia, refractory, due to 5Q deletionmegakaryocytes, unilobular nucleatedrefractory macrocytic anaemia due to 5q deletionrefractory macrocytic anemia due to 5q deletion

Definition

A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001)