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17号长臂等臂染色体。恶性血液疾病中的一种常见异常。

17 long arm isochromosome. A common anomaly in malignat blood disorders.

作者信息

Engel E, McKee L C, Flexner J M, McGee B J

出版信息

Ann Genet. 1975 Mar;18(1):56-60.

PMID:50044
Abstract

A cytogenetic anomaly consisting in the replacement of a 17 by its long arm isochromosome was identified as the only alteration in the marrow cells of two patients with acute granulocytic leukemia. In one case, the specific nature of the abnormal chromosome was established by newly available techniques. Since its identification in 1965, this structural anomaly, which implies 17 long arm duplication and short arm deletion, has been observed, as a sole or as an associated finding, in the malignant cells of a spectrum of blood disorders, including acute granulocytic leukemias, the blast crisis of chronic myeloid leukemia and lymphoreticular proliferative disorders. Attention is called to this particular rearrangement for its clinical as well as fundamental implications, as its presence in blood forming cells unfailingly hearalds a fast, fatal course of evolution.

摘要

在两名急性粒细胞白血病患者的骨髓细胞中,发现了一种细胞遗传学异常,即17号染色体被其长臂等臂染色体所替代,这是唯一的改变。在一个病例中,通过新的可用技术确定了异常染色体的具体性质。自1965年发现这种结构异常以来,这种意味着17号染色体长臂重复和短臂缺失的异常,已在一系列血液疾病的恶性细胞中作为唯一或相关发现被观察到,这些疾病包括急性粒细胞白血病、慢性粒细胞白血病的原始细胞危象和淋巴网状增殖性疾病。由于这种特殊重排在造血细胞中的存在必然预示着快速、致命的病程发展,因此其临床意义及基础意义值得关注。

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