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目的通过对广州地区近2年遗传咨询儿童染色体异常核型类别及其发生率进行分析,探讨染色体异常与疾病的关系。方法采用常规外周血淋巴细胞培养及染色体制备,G显带,镜下核型分析。结果 2583例遗传咨询儿童共检出染色体异常核型444例,检出率为17.19%;其中染色体数目异常374例(占异常核型84.23%)、染色体结构异常44例(占异常核型9.90%)、性反转26例(占异常核型5.86%);另检出染色体多态性119例,检出率为4.61%。结论染色体数目异常仍是最常见的染色体畸变类型,是导致智力低下、身材矮小、性发育异常等重要原因之一,应引起临床医生的足够重视。
Objective To investigate the relationship between chromosomal abnormalities and diseases by analyzing the karyotypes and incidence of chromosomal abnormalities in children with genetic counseling in the past two years in Guangzhou. Methods The routine peripheral blood lymphocyte culture and chromosome preparation, G banding, microscopic karyotype analysis. Results A total of 444 cases of chromosomal abnormalities were detected in 2583 children with genetic counseling, the detection rate was 17.19%. Among them, 374 cases (84.23%) were abnormal chromosomes, 44 cases were abnormal chromosomes (9.90% ), 26 cases of sexual inversion (accounting for 5.86% of abnormal karyotype); the other detected 119 cases of chromosomal polymorphisms, the detection rate was 4.61%. Conclusion Abnormal number of chromosomes is still the most common type of chromosomal aberration, which is one of the important causes of mental retardation, short stature, abnormal sexual development, which should be paid enough attention by clinicians.