余蕾;杨国珍;王碧;夏曙华;程树强;王荔平;
YU Lei;YANG Guozhen;WANG Bi;XIA Shuhua;CHENG Shuqiang;WANG Liping;Prenatal Diagnosis Center of Guizhou province,Affiliated Hospital of Guizhou Medical University;

• 1:贵州医科大学附院产前诊断中心

摘要(Abstract)：

目的:探讨贵阳地区染色体疾病儿童的染色体核型特点。方法:以贵阳地区某三甲医院就诊,临床表现为智能低下、生长发育迟滞、先天畸形、特殊表型等270例儿童为研究对象,采集其外周血进行染色体核型分析。结果:270例儿童中,确诊染色体异常核型101例,异常检出率为37.41%(101/270),其中常染色体异常核型83例,占总检查数30.74%(83/270),占异常数82.18%(83/101);性染色体异常核型18例,占总检查数6.67%(18/270),占异常数17.82%(18/101)。结论:贵阳地区染色体疾病儿童的染色体异常核型以常染色体为主。
Objective: To explore the feature of abnormal karyotype for children with chromosome disease in Guiyang. Methods: Totally 270 children with mental retardation,developmental disorders,birth defects and abnormal karyotype were studied by analyzing the peripheral blood chromosome karyotype in a major hospital of Guiyang City. Results: There were 101 cases of abnormal karyotype of chromosome and the abnormal rate was 37. 41%( 101 /270). Among the 101 cases of chromosomes aberrance,there were 83 cases of abnormal euchromosome karyotype( accounting for 30. 74% in total cases and 82. 18% in abnormal cases) while there were 18 cases of abnormal sex chromosome karyotype( accounting for 6. 67% in total cases and 17. 82% in abnormal cases). Conclusion: The abnormal euchromosome karyotypes predonminate in child chromosome disease in Guiyang.

关键词(KeyWords)： 儿童行为障碍;细胞遗传学分析;染色体核型;遗传咨询;染色体异常
child behavior disorder;cytogenetic analysis;chromosome karyotype;genetic counselling;chromosome abnormality

Abstract:

Keywords:

基金项目(Foundation): 国家级教学团队项目[教高函(2009)18号]

作者(Authors): 余蕾;杨国珍;王碧;夏曙华;程树强;王荔平;
YU Lei;YANG Guozhen;WANG Bi;XIA Shuhua;CHENG Shuqiang;WANG Liping;Prenatal Diagnosis Center of Guizhou province,Affiliated Hospital of Guizhou Medical University;

DOI: 10.19367/j.cnki.1000-2707.2015.11.009

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