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一名骨髓增生异常综合征患者出现1q的新型串联三倍体。

Novel tandem triplication of 1q in a patient with a myelodysplastic syndrome.

作者信息

Papenhausen P R, Wolkin-Friedman E, Pekzar-Wissner C

出版信息

Cancer Genet Cytogenet. 1984 Jun;12(2):145-50. doi: 10.1016/0165-4608(84)90126-2.

Abstract

This is a report of a patient with a myelodysplastic syndrome characterized by symptomatic neutropenia whose bone marrow aspirates have consistently demonstrated an unusual cytogenetic anomaly. The abnormality present in all metaphases consisted of a tandem triplication of a portion of the long arm of chromosome #1, resulting in tetrasomy of a section of this chromosome ( 1q21 -32). Duplications of this portion of chromosome #1 were observed as a nonrandom event in various malignant states. In addition, these precise breakpoints can be increasingly correlated with tandem duplications.

摘要

这是一份关于一名骨髓增生异常综合征患者的报告,其特征为有症状的中性粒细胞减少,骨髓穿刺检查一直显示出一种不寻常的细胞遗传学异常。所有中期相中存在的异常是1号染色体长臂的一部分发生串联重复,导致该染色体一部分(1q21 - 32)出现四体性。在各种恶性状态下,1号染色体这一部分的重复被观察为非随机事件。此外,这些精确的断点与串联重复的相关性越来越高。

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