Specificity of haematological indicators for '5q- syndrome' in patients with myelodysplastic syndromes.
83 patients with myelodysplastic syndromes were analyzed for the presence of three haematological features: (1) macrocytic anaemia, (2) normal or high platelet count and (3) megakaryocytic hypolobulation in most megakaryocytes. In 10 of the 83 patients, a 5q- chromosome was the only clonal aberration; 31 patients had other chromosomal aberrations (including 6 patients with 5q- chromosome and other abnormalities in the same clone) and 42 patients had a normal karyotype in their bone marrow cells. 9 patients displayed all three haematological features investigated. In 8 of these patients the 5q- chromosome was the only clonal aberration. The 9th patient had a karyotype of 47,XX, + 8. None of the 6 patients with 5q- chromosome and additional abnormalities in the same clone fulfilled all criteria. The '5q- syndrome', a situation with the 5q- chromosome as a sole aberration, should be accepted as a diagnostic entity within the macrocytic anaemias. This syndrome can be suspected on the basis of the above haematological indicators and the diagnosis confirmed with bone marrow karyotype analysis.
Department of Medical Genetics, University of Helsinki, Finland.
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Teerenhovi
D000368:Aged; D000748:Anemia, Macrocytic / Q000097:blood / Q000209:etiology; D002869:Chromosome Aberrations; D002895:Chromosomes, Human, Pair 5; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D008533:Megakaryocytes / Q000473:pathology; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000097:blood / Q000235:genetics*; D010976:Platelet Count; D013577:Syndrome