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明显正常的成年人群中染色体结构异常的发生率。

The frequencies of constitutional chromosome abnormalities in an apparently normal adult population.

作者信息

Tawn E J, Earl R

机构信息

Genetics Unit, Geoffrey Schofield Laboratories, British Nuclear Fuels plc, Cumbria, UK.

出版信息

Mutat Res. 1992 Sep;283(1):69-73. doi: 10.1016/0165-7992(92)90124-z.

Abstract

Constitutional karyotypes were determined in 1405 apparently normal adults referred for population studies of acquired chromosome abnormalities in peripheral blood lymphocytes. A total of 7 translocations (4 reciprocal, 3 Robertsonian), 1 extra structurally abnormal chromosome, 2 47,XXY and 12 inv(9) were detected. An examination of previous population studies illustrates the importance of considering differences in the resolution of the chromosome analysis when comparing frequencies of abnormalities.

摘要

对1405名因外周血淋巴细胞获得性染色体异常群体研究而转诊的表面正常成年人进行了染色体核型分析。共检测到7例易位(4例相互易位,3例罗伯逊易位)、1条额外的结构异常染色体、2例47,XXY和12例inv(9)。对以往群体研究的检查表明,在比较异常频率时考虑染色体分析分辨率差异的重要性。

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