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200例无法分类的智力发育迟缓患者及200例正常对照中的微小染色体变异和特定异态性

Minor chromosome variations and selected heteromorphisms in 200 unclassifiable mentally retarded patients and 200 normal controls.

作者信息

Tharapel A T, Summitt R L

出版信息

Hum Genet. 1978 Mar 17;41(2):121-30. doi: 10.1007/BF00273094.

Abstract

Lymphocyte chromosome preparations from 200 mentally retarded children and 200 normal adult controls were analyzed by G-, Q-, and C-banding techniques for minor chromosome variations (G and Q) and selected heteromorphisms (G and C). Minor variations scored included inv(9), prominent or decreased short arms and/or satellites on acrocentric chromosomes, and 17 ph. C heteromorphisms analyzed included those involving 1qh, 9zh, and 16zh regions. Length variations of Yq were scored on G-banded karyo types. No significant differences in frequencies of scored minor variations or heteromorphisms were noted between the retarded and control populations.

摘要

采用G显带、Q显带和C显带技术,对200名智力迟钝儿童及200名正常成人对照的淋巴细胞染色体标本进行分析,以检测微小染色体变异(G显带和Q显带)及选定的异态性(G显带和C显带)。记录的微小变异包括inv(9)、近端着丝粒染色体短臂和/或随体的突出或缩短,以及17ph。分析的C异态性包括涉及1qh、9zh和16zh区域的异态性。在G显带核型上记录Yq的长度变异。智力迟钝人群和对照人群在记录的微小变异或异态性频率上未发现显著差异。

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