南通地区遗传咨询患儿细胞遗传学分析与临床研究

Cytogenetic analysis and clinical study on genetic counseling children in Nantong.

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 rate of abnomal karyotype of genetic consultant. Methods： 174 genetic consultants aged 0 - 14 year- old were detected by lymphocyte chromosome G -banding or C -banding （if necessary） method in peripheral blood from 2000 Jan to 2008 Feb. Results ： From the 174 genetic consultants （ the main reasons of their counseling were mental retardation, sexual abnormality , dwarfism） we detected 61 abnormal cases. The abnormal karyotype took up 35.06% （61/174）. Among 61 abnormal karyotypes, 49 cases were involved in euehromosome, 12 cases were sex chromosome abnormality. Among 114 male consultants, 30 cases were abnormal. And 31 consultants were abnormal among 60 female cases. Conclusion： Chromosome abnormality is a considerable reason for mental retardation, sexual abnormality , dwarfism. Cytogenetic detection is necessary for the genetic consultation.