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Syndrome myelodysplasique avec deletion 5q a propos de 3 cas
Tunisie Medicale [La]. 1997; 75 (3): 127-131
en Francés | IMEMR | ID: emr-47165
ABSTRACT
The 5q- syndrome is a rare clinical and biological entity, included in the myelodysplastic syndromes, although the original FAB classification did not mention it. We report three observations of this syndrome. The diagnosis was suspected on the hemogram and myelogram data, and was confirmed by the karyotype. The three patients were women, aged 44, 63 and 69 years respectively. Anemic syndrome was the main reason of consultation. Anemia was macrocytic, aregenerative, Hb level was 8g/dl in 2 patients and 3.7 g/dl in the third one. The leukocyte number was normal in the three patients. Platelet number was increased in 2 patients, and normal in one. The myeloblast percentage did not exceed 4% in all cases, while erythroblasts were increased in one case. A dysmegakaryocytopoiesis, with numerous micromegakaryocytes and hypo- or bilobulated megakaryocytes was found in all cases. The karyotype revealed a deletion of the long arm of chromosome 5, which was isolated in 2 patients, with del 5 [q[13], q[31]] and del 5 [q[13], q[33]] respectively, and associated to a deletion of chromosome 13 in the third patient exhibiting del 5 [q[12], q[31]] + del 13 [q[12],q[14]]. One patient has been treated by erythropoietin and G-CSF and the two others by folates;androgens and bloodtransfusions. All three patients are still alive with a mean follow-up duration of 40 months
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Índice: IMEMR (Mediterraneo Oriental) Asunto principal: Cromosomas Humanos Par 5 / Aberraciones Cromosómicas / Deleción Cromosómica Tipo de estudio: Informe de Casos Límite: Femenino / Humanos Idioma: Francés Revista: Tunisie Med. Año: 1997

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Índice: IMEMR (Mediterraneo Oriental) Asunto principal: Cromosomas Humanos Par 5 / Aberraciones Cromosómicas / Deleción Cromosómica Tipo de estudio: Informe de Casos Límite: Femenino / Humanos Idioma: Francés Revista: Tunisie Med. Año: 1997