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Genetics and Molecular Biology
Print version ISSN 1415-4757
On-line version ISSN 1678-4685
MARQUES-SALLES, Terezinha de Jesus et al. Myeloproliferative syndrome of monosomy 7: a brief report. Genet. Mol. Biol. [online]. 2008, vol.31, n.1, pp.36-38. ISSN 1415-4757. http://dx.doi.org/10.1590/S1415-47572008000100007.
We report the case of a five-month-old black male infant who had recurrent episodes of respiratory infections and also presented anemia and enlargements of the spleen, liver and lymphnodes. Hematological analysis revealed morphological abnormalities with megaloblastic dyserythropoiesis, while fetal hemoglobin assaying showed normal levels. Conventional and molecular cytogenetic analysis revealed monosomy of chromosome 7. Despite all therapeutic efforts during allogenic bone marrow transplantation, the child died due to generalized infection. The clinical and genetic distinctions between monosomy 7 syndrome and myelodysplastic disorders in childhood are discussed.
Keywords : leukemia; monosomy 7; myeloproliferative syndrome.