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[染色体带。对临床和细胞遗传学研究的意义(作者译)]

[The chromosome bands. Significance for clinical and cytogenetic research (author's transl)].

作者信息

Stengel-Rutkowski S, Walther J U, Wirtz A, Frankenberger R, Albert A, Murken J D

出版信息

MMW Munch Med Wochenschr. 1976 May 7;118(19):595-608.

PMID:59310
Abstract

The methods of performing chromosomal investigations have been fundamentally changed in the last few years through the discovery of differential staining methods. While only a rough classification of the chromosomes into single groups could be carried out earlier, it is now possible to identify every individual pair of chromosomes on the basis of a typical pattern of bands. By means of these banding techniques smaller chromosomal variations can be recognized which were overlooked earlier and which have led to the delineation of new chromosomal malformation syndromes. In the present work, the modern methods of chromosome analysis are reviewed. Examples from clinical diagnosis show the necessity of using these techniques.

摘要

在过去几年中,由于鉴别染色方法的发现,染色体研究方法发生了根本性的变化。以前只能对染色体进行大致的单组分类,而现在可以根据典型的带型模式识别每一对单独的染色体。借助这些显带技术,可以识别出较小的染色体变异,这些变异在以前被忽视了,并且由此界定了新的染色体畸形综合征。在本研究中,对现代染色体分析方法进行了综述。临床诊断的实例表明了使用这些技术的必要性。

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