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目的:探讨染色体异常与智力低下、原发性闭经及不孕、男性不育、不良孕产史等疾病的关系。方法:对1388例遗传咨询患者进行外周血染色体核型分析。结果:检出染色体异常核型74例,检出率5.33%(74/1388)。其中智力低下患儿中21号染色体异常31例,占异常核型的41.89%(31/74);不孕不育患者中性染色体异常29例,占异常核型的39.19%(29/74);习惯性流产中染色体结构或数目异常11例,占异常核型的14.86%(11/74);其他异常核型3例,占4.05%(3/74)。结论:优生遗传咨询是检测遗传性疾病的一种有效手段,细胞遗传学方法是诊断染色体病、检出携带者以及进行产前诊断的重要方法,提供诊断依据和生育指导具有非常重要的意义。
Objective: To investigate the relationship between chromosomal abnormalities and mental retardation, primary amenorrhea and infertility, male infertility and poor pregnancy history. Methods: 1388 cases of genetic counseling patients with peripheral blood chromosome karyotype analysis. Results: There were 74 cases of chromosomal abnormalities detected, the detection rate was 5.33% (74/1388). Among them, there were 31 cases of abnormal chromosome 21 in children with mental retardation, accounting for 41.89% (31/74) of abnormal karyotypes; 29 cases of infertility patients with neutral chromosome abnormalities, accounting for 39.19% (29/74) of abnormal karyotypes, 11 cases were abnormal chromosome structure or number in habitual abortion, accounting for 14.86% (11/74) of abnormal karyotype; 3 cases were other abnormal karyotype, accounting for 4.05% (3/74). Conclusion: Eucalyptus genetic counseling is an effective measure to detect genetic diseases. Cytogenetics is an important method to diagnose chromosomal diseases, detect carriers and conduct prenatal diagnosis. It is of great significance to provide diagnosis basis and guidance for fertility.