9 results for "Oumar Samassekou"
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Journal Article
Individual Telomere Lengths in Chronic Myeloid Leukemia
Chronic myeloid leukemia (CML) is a neoplasia characterized by proliferation of a myeloid cell lineage and chromosome translocation t(9;22) (q34;q11.2). As in the case of most cancers, the average telomere length in CML cells is shorter than that in normal blood cells. However, there are currently…
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Journal Article
Acquired pericentric inversion of der(9) with BCR and ABL1 codeletion in chronic myeloid leukemia: a rare cytogenetic finding from Mali
Abstract Background Chronic myeloid leukemia (CML) is defined by the presence of the BCR::ABL1 fusion gene resulting from the t(9;22)(q34;q11.2) translocation. In addition to this primary rearrangement, secondary chromosomal abnormalities involving chromosomes 9 and 22 may arise during clonal…
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Journal Article
Down Syndrome due to de Novo Robertsonian Translocation Rob(21;21) in Mali
ABSTRACT Down syndrome (DS) is the most common chromosomal disorder among live births, most frequently resulting from free trisomy 21. Robertsonian translocations, which arise from the fusion of acrocentric chromosomes, represent a rare but clinically significant mechanism underlying DS. Among…
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Journal Article Full text
Contribution of 1p, 19q, 9p and 10q Automated Analysis by FISH to the Diagnosis and Prognosis of Oligodendroglial Tumors According to WHO 2016 Guidelines
Objective: To study the feasibility and the diagnostic and prognostic interest of automated analysis of 1p, 19q, 9p and 10q status by FISH technique in oligodendroglial tumors. Methods: We analyzed a retrospective series of 33 consecutive gliomas with oligodendroglial histology (originally…
Also available at: DOAJ
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Journal Article
Chromosome Arm-Specific Long Telomeres: A New Clonal Event in Primary Chronic Myelogenous Leukemia Cells
Previous studies demonstrated that critically shortened telomere lengths correlate with the chromosome instability in carcinogenesis. However, little has been noticed regarding the correlation of long telomeres at specific chromosomes with malignant disorders. We studied relative telomere lengths…
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Journal Article
Using the Fluorescence In Situ Hybridization in the Diagnosis of Trisomy 13 in a Male Newborn From Mali
ABSTRACT This case report details the first confirmed diagnosis of Trisomy 13 (Patau syndrome) in Mali using Fluorescence In Situ Hybridization (FISH). The male newborn presented with multiple congenital anomalies, including polydactyly and micrognathia. The diagnosis expands the understanding of…
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Journal Article
A novel de novo variant in the RUNX2 gene causes cleidocranial dysplasia in a Malian girl
Key Clinical Message Cleidocranial dysplasia (CCD) is a rare genetic skeletal disorder with only few cases reported in Africa, mostly based on clinical and radiological findings. We report the first case in Mali, caused by a novel de novo variant in the RUNX2 gene. Abstract Cleidocranial dysplasia…
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Journal Article
AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia
Hereditary spastic paraplegia (HSP) comprises a large group of neurogenetic disorders characterized by progressive lower extremity spasticity. Neurological evaluation and genetic testing were completed in a Malian family with early-onset HSP. Three children with unaffected consanguineous parents…