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The hematological and clinical features of 26 patients with myelodysplasia and a chromosome 5q deletion in the bone marrow are presented. We have examined the relationship of French-American-British Co-operative Group (FAB) 1982 classification and bone marrow karyotype at diagnosis with patient outcome and the presence or absence of the classical features of the 5q-syndrome. Those patients classified as refractory anemia (RA) with no additional karyotypic abnormalities have the typical features of the 5q-syndrome and a good prognosis. None of the patients in this group transformed to acute leukemia during the period of follow-up. Patients with either refractory anemia and excess blasts (RAEB) or additional karyotypic abnormalities show many of the hematologic features of the 5q-syndrome but do not share the good prognosis. We conclude that the 5q-syndrome may be best defined as primary MDS of the FAB type RA with a 5q deletion as the sole karyotypic abnormality. This simple definition will distinguish patients with a good prognosis and all the classical features of the 5q-syndrome.


Journal article


Am J Hematol

Publication Date





194 - 200


Acute Disease, Adult, Aged, Aged, 80 and over, Anemia, Refractory, Anemia, Refractory, with Excess of Blasts, Bone Marrow, Chromosomes, Human, Pair 5, Female, Gene Deletion, Humans, Karyotyping, Leukemia, Male, Middle Aged, Myelodysplastic Syndromes, Prognosis