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目的研究遗传优生咨询患者中染色体异常核型的发生率,探讨遗传因素在不良孕产史中的重要性。方法回顾本院自2010年以来送检的931例外周血、脐血标本,通过染色体培养技术,G显带,必要时进行C显带检查,显微镜下进行核型分析。结果 931例遗传咨询患者,就诊原因主要为胎儿畸形、体格或智力发育迟缓、性分化异常、不良孕产史、原发及继发性闭经等,共检出异常染色体核型96例,检出率为10.31%(96/931),其中染色体多态性21例,占异常总数的21.88%,96例异常中常染色体结构和数目异常56例,占异常核型的58.33%(56/96),性染色体结构和数目异常40例,占41.67%(40/96)。结论染色体异常是导致胎儿畸形、智力低下、不良孕产史、性发育异常等疾病的重要原因之一,对相关人群进行染色体检查是十分必要的,染色体多态性对上述方面的影响也不可忽略。
Objective To study the incidence of chromosomal abnormal karyotype in patients with genetic eugenics and to explore the importance of genetic factors in the history of adverse pregnancy. Methods A retrospective review of 931 samples of peripheral blood and umbilical cord blood taken in our hospital since 2010 was performed by means of chromosome culture and G-banding. C-banding was performed if necessary and karyotype analysis was conducted under a microscope. Results 931 cases of genetic counseling patients, the main reason for the treatment of fetal malformations, physical or mental retardation, sexual dysplasia, poor pregnancy history, primary and secondary amenorrhea, were detected in 96 cases of abnormal chromosome karyotype, detected The rate of chromosomal abnormalities was 21.3% (96/931) in 21 cases, accounting for 21.88% of the total number of abnormalities. Of the 96 cases, there were 56 cases with abnormal autosomal structure and number, accounting for 58.33% (56/96) of the abnormal karyotypes, Sex chromosome abnormalities and the number of 40 cases, accounting for 41.67% (40/96). Conclusion Chromosomal abnormalities are one of the most important causes of fetal malformations, mental retardation, poor pregnancy history and sexual dysplasia. Chromosomal examination of related populations is very necessary, and the influence of chromosome polymorphism on these aspects should not be ignored .