Myelodysplastic syndrome associated with isolated del(5q)

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)

Also known as 5Q minus syndrome, 5Q- syndrome, 5q- syndrome, refractory macrocytic anaemia due to 5q deletion, chromosome 5q deletion syndrome, macrocytic anemia, refractory, due to 5q deletion, somatic, myelodysplastic syndrome associated with isolated del (5q) chromosome Abnormality, myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality, myelodysplastic syndrome with 5q deletion, myelodysplastic syndrome with isolated del(5q) — per MONDO

Also identified as

• DOID 0090016 per MONDO
• ICD10CM D46.C per MONDO
• MESH C535323 per MONDO
• NCIT C6867 per MONDO
• OMIM 153550 per MONDO
• Orphanet 86841 per MONDO
• SCTID 277597005 per MONDO
• UMLS C1292779 per MONDO

Affected Organs