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目的分析广州地区近3年遗传咨询患儿染色体异常核型类别及其发生率。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 2697例遗传咨询患儿共检出染色体异常核型741例,检出率为27.47%;其中染色体数目异常666例(占异常核型89.88%)、染色体结构异常50例(占异常核型6.75%)、性反转25例(占异常核型3.37%);另检出染色体多态性233例,检出率为8.64%。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。
Objective To analyze the karyotypes and incidence of chromosomal abnormalities in children with genetic counseling in Guangzhou in recent 3 years. Methods The routine peripheral blood lymphocyte culture and chromosome preparation, G banding, microscopic karyotype analysis. Results A total of 2697 cases of genetic counseling were detected in 741 cases of chromosomal abnormalities, the detection rate was 27.47%. There were 666 abnormal chromosomes (accounting for 89.88%), 50 chromosomal abnormalities (accounting for 6.75 %), 25 cases of sexual inversion (accounting for 3.37% of abnormal karyotype); the other detected 233 cases of chromosomal polymorphisms, the detection rate was 8.64%. Conclusions Abnormal number of chromosomes is still the most common type of chromosomal aberration, which is one of the important reasons leading to mental retardation, short stature and abnormal sexual development.