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目的研究遗传咨询患儿中染色体异常核型的发生率。方法本文自2000年1月至2008年2月对174例年龄在14周岁以内的遗传咨询患儿做了外周血淋巴细胞染色体核型分析,通过胰酶消化,G显带,必要时进行C显带检查,显微镜下进行核型分析。结果在因智力低下、性分化异常、身材矮小等前来行遗传咨询的174例患儿中,共检出异常核型61例,异常率35.06%。常染色体结构和数目异常49例,占异常核型的80.33%(49/61),性染色体结构和数目异常12例,占19.67%(12/61)。男患儿114例,检出异常核型30例,异常率26.32%(30/114);女患儿60例,异常核型31例,异常率51.67%(31/60)。结论异常染色体是导致智力低下、性发育异常、身材矮小等疾病的重要原因之一,对指导临床诊疗具有重要参考意义,因此染色体检查是十分必要的。
Objective To study the incidence of chromosomal abnormalities in children with genetic counseling. Methods From January 2000 to February 2008 in 174 cases of children under the age of 14 genetic counseling children with peripheral blood lymphocyte chromosome karyotype analysis by trypsinization, G banding, if necessary, C significant With inspection, karyotype analysis under the microscope. Results Among the 174 children who received genetic counseling due to mental retardation, abnormal sexual differentiation and short stature, 61 cases were abnormal karyotypes, with an abnormal rate of 35.06%. The number and structure of autosomal chromosomes were abnormal in 49 cases, accounting for 80.33% (49/61) of abnormal karyotypes and 12 cases (19.67%) of abnormal sex chromosome structures and numbers. There were 114 cases of children with abnormal karyotype in 30 cases, the abnormality rate was 26.32% (30/114). There were 60 cases of female children and 31 cases of abnormal karyotype. The abnormal rate was 51.67% (31/60). Conclusions Abnormal chromosomes are one of the important causes of mental retardation, sexual dysplasia, short stature and other diseases. They are important reference for clinical diagnosis and treatment, so chromosome examination is very necessary.