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玉林地区智力低下儿童与染色体异常核型关系的探讨
引用本文:邓国生. 玉林地区智力低下儿童与染色体异常核型关系的探讨[J]. 中国优生与遗传杂志, 2014, 0(1): 57-57,16
作者姓名:邓国生
作者单位:广西壮族自治区玉林市妇幼保健院,广西玉林537000
摘    要:目的为了解智力低下的儿童与染色体异常核型关系。方法对320例智力低下儿童采用外周血细胞培养法,G显带检测染色体核型。结果320例智力低下的儿童,发现染色体异常核型222例,异常检出率69.38%,其中,21-三体综合征215例(包括标准型21-三体综合征203例,易位型21-三体综合征9例,嵌合体型21-三体综合征3例),检出率67.19%;平衡易位2例,检出率0.62%;其它结构异常5例,检出率1.25%。结论智力低下的儿童与染色体核型异常有密切关系,染色体异常核型以21-三体综合征为主。

关 键 词:智力低下  儿童  染色体核型

Mental retardation children and chromosome abnormal karyotype of Yulin area
Affiliation:DENG Guo - sheng. ( Yulin City Maternaland Child Health Care Hospital, Guangxi 537000, China)
Abstract:Objective : To understand the mental retardation of children with abnormal karyotype relationships. Methods : 320 cases of mental retardation children using peripheral blood cell culture method, G banding karyotype detection. Results : 320 cases of mental retardation children, found 222 cases of abnormal karyotypes, abnormal detection rate 69.38% , among them, 21 - trisomy syndrome: report of 215 cases (including standard 21 - trisomy syndrome 203 cases, translocation trisomy 21 - syndrome 9 cases, mosaic type 21 - trisomy syndrome: report of 3 cases), 67.19% detection rate; Balanced translocations in 2 cases, the detection rate of 0. 62% ; other structural abnormalities in 5 cases, the detection rate of 1.25%. Conclusion: mental retardation children with abnormal karyo-types are closely related, with abnormal karyotype of chromosome 21 - trisomy syndrome mainly with.
Keywords:Mental retardation  Children  Chromosome karyotype
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