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[当今的染色体分析:技术要点、适应证及该方法的重要性]

[The analysis of chromosomes today: aspects of the technic with indications and importance of the method].

作者信息

Mücke J, Sandig K R, Trautmann U

出版信息

Z Gesamte Inn Med. 1981 Jun 1;36(11):347-51.

PMID:6458166
Abstract

0.5 to 1% of all newborn possess a chromosomal aberration. In a growing number of neoplasias chromosomal disturbances become known. 10 years after the introduction of the band technique into cytogenetics this method must be regarded as most essential progress in the description of chromosomes. Apart from the exact identification of each individual chromosome the band technique allows the exact establishment of fraction points and gives the possibility of new progress in the gene tabulation. With the help of instances some of these possibilities are demonstrated. Prerequisite for the effective use of the analysis of chromosomes is a strong indication. An indication catalogue concerning the clinical application of the method summarizes the essential problems from paediatrics, gynaecology and internal medicine.

摘要

所有新生儿中有0.5%至1%存在染色体畸变。在越来越多的肿瘤中,染色体紊乱已为人所知。染色体显带技术引入细胞遗传学10年后,该方法必须被视为染色体描述方面最重要的进展。除了能准确识别每一条染色体外,显带技术还能精确确定断裂点,并为基因定位带来新进展的可能性。借助实例展示了其中的一些可能性。有效进行染色体分析的前提是有明确的指征。一份关于该方法临床应用的指征目录总结了儿科学、妇科学和内科学的关键问题。

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