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目的探讨染色体异常与不良孕产史、智力低下、原发闭经、不孕不育等疾病的关系。方法对1784例疑有染色体异常患者常规询问病史、体检,取外周血进行淋巴细胞培养、制片、G显带及染色体核型分析。结果在1784例中,共检出染色体异常117例,异常核型检出率为6.56%,其中常染色体异常79例,占67.52%;性染色体异常30例,占25.64%,性别核型不符8例,占6.84%。结论对具有不良孕产史、智力低下、原发闭经及不孕不育等患者进行染色体检查及核型分析,对寻找病因、指导优生具有重要意义。
Objective To investigate the relationship between chromosomal abnormalities and poor pregnancy history, mental retardation, primary amenorrhea and infertility. Methods 1784 cases of suspected chromosomal abnormalities were routinely asked for medical history, physical examination, peripheral blood for lymphocyte culture, preparation, G banding and karyotype analysis. Results Of the 1784 cases, 117 cases were detected chromosomal abnormalities, the detection rate of abnormal karyotype was 6.56%, of which 79 cases were autosomal abnormalities (67.52%), 30 cases were sex chromosome abnormalities (25.64%), and karyotype 8 Example, accounting for 6.84%. Conclusions Chromosome examination and karyotype analysis in patients with poor history of maternity, mental retardation, primary amenorrhea and infertility are of great significance in finding the cause and guiding the development of eugenics.