Ferro M T, Vázquez-Mazariego Y, Ramiro S, Santiago M F, García-Sagredo J M, Nuñez R, Hernández J M, San Roman C
Department of Medical Genetics, University Hospital Ramón y Cajal, Madrid, Spain.
Cancer Genet Cytogenet. 2000 Jul 15;120(2):163-5. doi: 10.1016/s0165-4608(99)00261-7.
We report three cases of tetrasomy 8 associated with myeloid disease. Two patients had chronic myelomonocytic leukemia (CMMoL) and the other had acute monocytic leukemia (AML M5 FAB). Two patients had trisomy/tetrasomy chromosome 8 as the sole abnormality. The other patient with CMMoL had two normal 8 chromosomes plus one isochromosome 8q; this is the first case of long arm chromosome 8 tetrasomy without short arm 8 monosomy. This cytogenetic finding suggests the importance of the genes located in the long arms of chromosome 8.
我们报告了3例与髓系疾病相关的8号染色体四体病例。2例患者患有慢性粒单核细胞白血病（CMMoL），另1例患有急性单核细胞白血病（AML M5 FAB）。2例患者的8号染色体三体/四体是唯一的异常。另1例CMMoL患者有两条正常的8号染色体加上一条8号染色体长臂等臂染色体；这是首例无8号染色体短臂单体的8号染色体长臂四体病例。这一细胞遗传学发现提示了位于8号染色体长臂上基因的重要性。
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