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目的研究儿童染色体异常核型的主要分布情况以及与临床表型的关系。方法按常规方法制备患者外周血淋巴细胞染色体,G显带,显微镜下进行核型分析。结果1305例遗传咨询者中染色体异常275例,异常检出率21.1%(275/1305)。常染色体异常233例,检出率17.9%(233/1305),其中数目异常200例,占异常核型的72.7%(200/275),结构异常33例,占异常核型的12%(33/275);性染色体异常42例,检出率3.2%(42/1305),其中数目异常22例,占异常核型的8%(22/275),结构异常20例,占异常核型的7.3%(20/275)。结论儿童常染色体畸变以21-三体综合征最为多见,性染色体畸变以Turner综合征最为多见;染色体畸变是导致儿童先天畸形、身材矮小、智力低下、性发育异常等疾病的重要原因之一,染色体检查可对患儿明确病因、及早诊治、遗传咨询提供依据。
Objective To study the distribution of karyotype abnormalities in children and its relationship with clinical phenotypes. Methods Chromosomes of peripheral blood lymphocytes were prepared by conventional methods, G banding, karyotype analysis under the microscope. Results There were 275 cases of chromosomal abnormalities in 1305 cases of genetic counseling, the rate of abnormality was 21.1% (275/1305). The autosomal abnormalities were detected in 233 cases with the detection rate of 17.9% (233/1305), of which 200 were abnormal, accounting for 72.7% (200/275) of abnormal karyotypes, 33 were structural abnormalities, accounting for 12% of abnormal karyotypes / 275). There were 42 cases of chromosomal abnormalities with a detection rate of 3.2% (42/1305), of which 22 cases were abnormal in number, accounting for 8% (22/275) of abnormal karyotypes and 20 cases of abnormal karyotypes 7.3% (20/275). Conclusion Chronic autosomal abnormality in children is the most common in 21-trisomy syndrome, and the most common type of chromosomal aberration is Turner syndrome. Chromosome aberration is an important cause of congenital malformation, short stature, mental retardation and sexual dysplasia in children. First, chromosomal examination of children with a clear cause, early diagnosis and treatment, genetic counseling to provide the basis.