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目的探讨本地区前来我院优生门诊等咨询者染色体异常情况,分析染色体异常核型与临床常见疾患的关系,为临床咨询及处理提供相关参考。方法采用本科室制定的外周血淋巴细胞培养技术,G显带技术,核型分析。结果4375例遗传咨询者中,检查出染色体异常者209例。异常检出率为4.7%(209/4375),其中检测出:染色体数目异常128例,其中染色体嵌合体12例;染色体易位81例。结论染色体核型异常是导致流产、原发性闭经、智力低下及发育异常的重要原因之一,对有特定临床表现的患者进行染色体分析,对指导临床诊断及优生具有重要意义。
Objective To investigate the chromosomal abnormalities in consultants such as prenatal and postnatal care clinics in our region, analyze the relationship between chromosomal abnormal karyotypes and common clinical diseases, and provide relevant references for clinical consultation and treatment. Methods The peripheral blood lymphocyte culture technique, G - banding technique and karyotype analysis were established in this department. Results 4375 cases of genetic counseling, check out the chromosomal abnormalities in 209 cases. The detection rate of anomaly was 4.7% (209/4375). Among them, 128 cases were detected abnormal chromosome number, including 12 chromosome chimerism and 81 chromosomal translocation. Conclusion Chromosomal aberrations are one of the important causes of miscarriage, primary amenorrhea, mental retardation and dysplasia. Chromosome analysis in patients with specific clinical manifestations is of great significance in guiding clinical diagnosis and eugenics.