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Sindrom 5q- = 5q-syndromeFrković-Grazio, Snježana ...5q-syndrome is a rare form of myelodysplastic syndrome (MDS) characterized by deletion in the region of the long arm of chromosome 5. Clinically, it presents as mild or moderate anemia accompanied by ... elevated or normal plateletcount and normal or slightly elevated leukocyte count. Clinical and laboratory findings are nonspecific and may mimic those in myeloproliferative disorder, especially essential thrombocytemia. Bone marrow changes are often inconspicuous and may be more easily found in bone marrow biopsy specimens. Cytogenetic confirmation is required for definite diagnosis. Since 5q-syndromehas favorable prognosis, its delineation from other forms of MDS isclinically important. We report a 69-year-old female patient who had been treated for hypertension and throm- bembolisms and in whom a mild anemia and thrombocytosis were found in 1995. A myelo- proliferative disorder was suspected and bone marrow aspiration was performed which was unremarkable. Bone marrow biopsy showed morphologic changes suggestive of 5q-syndrome and cytogenetic examination was recommended. It revealed a 46, XX, del (5)(q13q33)karyotype and confirmed the diagnosis. During the 4-year follow-up there were no major changes in laboratory findings: a mild macrocytic anemia with variable elevation of platelet count and normal leukocyte count persisted. The patient was treated with packed red blood cell transfusions.Source: Medicinski razgledi. Supplement. - ISSN 0353-3484 (Letn. 39, suppl. 5, 2000, str. 161-163)Type of material - conference contributionPublish date - 2000Language - slovenianCOBISS.SI-ID - 12329433
Author
Frković-Grazio, Snježana |
Bračko, Matej |
Dobnik, Sonja |
Grat, Mateja
Topics
Myelodysplastic syndromes |
Genetics |
Chromosomes, human, pair 5 |
Chromosome deletion |
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Frković-Grazio, Snježana | 13983 |
Bračko, Matej | 08616 |
Grat, Mateja | 23517 |
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