Molecular characterization of deletions of the long arm of chromosome5 (del(5q)) in 94 MDS/AML patients.

Deletion of the long arm of chromosome 5 (del(5q)) is a common finding in myelodysplastic syndrome (MDS) and in acute myeloid leukemia (AML). First described in 1974 by Van den Berghe et al.,1 the 5q- syndrome, more frequently found in old-aged females, is characterized by erythroid hypoplasia, macrocytic anemia, normal to elevated platelets count, preponderance of monolobulated megakaryocytes, isolated 5q deletion and low rate of progression to AML.