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内蒙古地区1132例遗传咨询者染色体分析
引用本文:王晓华,冀小平,董弘,冯莉. 内蒙古地区1132例遗传咨询者染色体分析[J]. 包头医学院学报, 2004, 20(1): 29-30
作者姓名:王晓华  冀小平  董弘  冯莉
作者单位:内蒙古妇幼保健院遗传科,内蒙古,呼和浩特,010020
摘    要:目的:探讨染色体异常在遗传咨询者中的发生及分布情况.方法:取受检者外周血进行淋巴细胞培养,常规收获制片,G显带处理、分析.结果:分析1 132例遗传咨询者核型,检出染色体异常76例,染色体异常检出率为6.71%.其中常染色体数目异常42例(占55.26%),性染色体异常17例(占22.37%),平衡易位7例(占9.21%),罗伯逊易位5例(占6.58%),倒位4例(占5.26%),缺失1例(占1.32%).结论:智力低下、生长发育迟缓以及生育异常与染色体异常有关,对这些患者进行染色体核型分析在治疗上有指导意义.

关 键 词:染色体  核型分析  染色体异常
文章编号:1006-740X(2004)01-0029-02
修稿时间:2004-02-16

Chromosome Analysis of 1 132 Patients Seeking Genetic Counseling in Inner Mongolia Region
WANG Xiaohua,JI Xiaoping,DONG Hong,et al.. Chromosome Analysis of 1 132 Patients Seeking Genetic Counseling in Inner Mongolia Region[J]. Journal of Baotou Medical College, 2004, 20(1): 29-30
Authors:WANG Xiaohua  JI Xiaoping  DONG Hong  et al.
Abstract:Objective: To investigate the occurrence and distribution of chromosome abnormality in patients seeking genetic counseling.Methods: Get circumference blood to cultivate lymphocyte, produce according to routine procedure and then undergo G strap analysis. Results: 76 cases with abnormal chromosome (6.71%) were found in 1132 patients seeking genetic counseling. Among them, 42 cases (55.26%) were with autosome number abnormality, 17 cases (22.37%) were with allosome abnormality, 7 cases (9.21%) were with reciprocal translocation, 5 cases (6.58%) were with Robertson translocation, 4 cases (5.26%) were with inversion, 1 case (1.32%) was with deletion.Conclusion: Chromosome abnormality is one of the cause related to mental retardation, stunted growth, and abnormal procreation. Karyotype analysis carried out towards these patients is of significance in directing appropriate treatment.
Keywords:Chromosome  Karyotype analysis  Chromosome abnormality
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