染色体异常的计算机辅助分析：无虹膜-威尔姆斯瘤综合征中一种缺失的检测

Computer-assisted analysis of chromosomal abnormalities: detection of a deletion in aniridia-Wilms' tumor syndrome.

作者信息

Ladda R, Atkins L, Littlefield J, Neurath P, Marimuthu K M

出版信息

Science. 1974 Aug 30;185(4153):784-7. doi: 10.1126/science.185.4153.784.

DOI:10.1126/science.185.4153.784

Abstract

A chromosome translocation, t(8p + ; 11q -), in a patient with aniridia and Wilms' tumor, appeared balanced by standard techniques, including trypsin banding. Computer analysis of optical microscope scanning profiles of chromosome pairs 8 and 11 revealed an interstitial deletion of the short arm of 8. Computer analysis coupled to the new banding techniques provides greater resolution for the detection of subtle chromosomal variations not recognized by banding methods alone.

摘要

一名患有无虹膜症和威尔姆斯瘤的患者存在一种染色体易位，即t(8p + ; 11q -)，用包括胰蛋白酶显带在内的标准技术检测时，其似乎是平衡的。对8号和11号染色体对的光学显微镜扫描图像进行计算机分析后发现，8号染色体短臂存在中间缺失。计算机分析与新的显带技术相结合，能够为检测仅靠显带方法无法识别的细微染色体变异提供更高的分辨率。

相似文献

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Computer-assisted analysis of chromosomal abnormalities: detection of a deletion in aniridia-Wilms' tumor syndrome.

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