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目的研究不良孕产史、智力低下、不孕不育等疾病的细胞遗传学原因。探讨细胞遗传学检查与优生关系的临床意义。方法采用外周血淋巴细胞培养技术、G显带、每例患者镜下分别计数30个核型,分析核型3~5个,对异常者加倍计数和分析,并按《人类细胞遗传学国际命名体制(ISCN)》的标准命名。结果145例异常核型中,总异常率21.11%。其中不良孕产史检出率8.53%;不孕不育检出率25%;男性少精子或无精子症检出率54.02%;性发育异常检出率31.81%;智力低下发育异常检出率55.84%。结论染色体异常是不良孕产史和不孕不育、智力低下、多发畸形、性发育异常等疾病的重要原因之一,染色体核型分析可以明确病因,指导临床诊断、治疗。
Objective To study the cytogenetics of poor pregnancy history, mental retardation, infertility and other diseases. To explore the clinical significance of the relationship between cytogenetics and eugenics. Methods Peripheral blood lymphocyte culture technique was used. G banding was performed. Each patient underwent microscopic counting of 30 karyotypes, 3 to 5 karyotypes, double counting and analysis of abnormalities, and according to the International Nomenclature of Human Cytogenetics System (ISCN) "standard naming. Results 145 cases of abnormal karyotype, the total abnormal rate of 21.11%. Among them, the detection rate of unfavorable pregnancy history was 8.53%; the detection rate of infertility was 25%; the detection rate of male oligospermia or azoospermia was 54.02%; the detection rate of sexual development was 31.81%; the detection rate of abnormal development of mental retardation 55.84%. Conclusion Chromosomal abnormalities are one of the important causes of adverse pregnancy history and infertility, mental retardation, multiple deformities and sexual dysplasia. Chromosome karyotype analysis can clarify the cause and guide clinical diagnosis and treatment.