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一所智障人士机构的细胞遗传学调查:I. 染色体异常

A cytogenetic survey of an institution for the mentally retarded: I. Chromosome abnormalities.

作者信息

Jacobs P A, Matsuura J S, Mayer M, Newlands I M

出版信息

Clin Genet. 1978 Jan;13(1):37-60. doi: 10.1111/j.1399-0004.1978.tb04127.x.

Abstract

A cytogenetic survey of 475 patients in an institution for the mentally retarded is reported. The chromosomes of all patients were studied using both a non-banding and a G-banding technique in order to estimate the relative efficiency of the two technique in detecting structural rearrangements of the chromosomes. A total of 57 patients was found to have a chromosome abnormality, including five with a balanced structural rearrangement. The contribution of chromosome aberrations to the etiology of mental retardation is discussed with special emphasis on the contribution of balanced structural rearrangements.

摘要

本文报告了对一家智障机构中475名患者进行的细胞遗传学调查。为了评估两种技术在检测染色体结构重排方面的相对效率,使用非显带和G显带技术对所有患者的染色体进行了研究。共发现57名患者存在染色体异常,其中5名有平衡结构重排。本文讨论了染色体畸变对智力迟钝病因的影响,特别强调了平衡结构重排的影响。

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