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138例身材矮小儿童染色体核型分析

Chromosome analysis on 138 cases of children with short stature

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【作者】 张美华张爱东李娟李欣迎邱毅

【Author】 ZHANG Mei-hua;ZHANG Ai-dong;LI Juan;LI Xin-ying;QIU Yi;Key Laboratory for Improving Birth Outcome Technique,Shandong Provincial Family Planning Institute of Science and Technology;

【机构】 山东省计划生育科学技术研究所山东省优生技术重点实验室

【摘要】 目的探讨身材矮小儿童细胞遗传学方面的原因。方法按常规技术方法制备外周血染色体G显带,并进行染色体核型分析。结果 在138例受检儿童中,检出染色体异常核型39例,检出率为28.26%;其中常染色体异常1例,性染色体异常38例。结论 性染色体异常是儿童身材矮小的重要遗传因素,对身材矮小儿童进行外周血染色体核型分析具有重要意义。

【Abstract】 Objective To explore the chromosome cause of the children with short stature.Methods Peripheral blood chromosome was prepared by conventional techniques,G banding stained and analyzed.Results Of 138 cases with short stature,39 cases were detected with abnormal chromosome karyotype,accounting for 28.26%.There were 1 case of autosome abnormality and 38 cases of sex chromosome abnormalities.Conclusion Sex chromosome abnormality is an important reason for children with short stature.It is important to take the karyotype analysis of chromosome for children with short stature.

  • 【文献出处】 中国妇幼健康研究 ,Chinese Journal of Woman and Child Health Research , 编辑部邮箱 ,2013年04期
  • 【分类号】R394
  • 【被引频次】4
  • 【下载频次】13
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