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目的探讨2273例患者细胞遗传学分析与临床意义,为临床诊断疾病提供指导意见。方法对自然流产、不孕不育、智力低下和性腺发育不全等2273例遗传咨询者进行外周血染色体核型分析。结果在2273例的咨询者中有252例染色体核型异常,异常率为11.09%。其中,自然流产和不良孕产史者占41.26%,智力低下者占26.98%,不孕不育占5.56%,性腺发育不全占23.41%,其他的占2.78%。结论染色体异常是自然流产、智力低下、不孕不育、性腺发育不全等的重要病因,对遗传咨询者进行细胞遗传学分析可为临床诊断和优生优育提供依据。
Objective To investigate the cytogenetic analysis and clinical significance of 2273 patients and provide guidance for the clinical diagnosis of the disease. Methods A total of 2273 genetic counselors, including spontaneous abortion, infertility, mental retardation and gonadal hypoplasia, were analyzed for peripheral blood karyotypes. Results Among the 2273 consultants, 252 had karyotype abnormalities with an abnormality rate of 11.09%. Among them, the history of spontaneous abortion and unwanted birth accounted for 41.26%, mental retardation accounted for 26.98%, infertility accounted for 5.56%, gonadal hypoplasia accounted for 23.41%, others accounted for 2.78%. Conclusion Chromosomal abnormalities are the major causes of spontaneous abortion, mental retardation, infertility and gonadal hypoplasia. Cytogenetic analysis of genetic counselors may provide evidence for clinical diagnosis and prenatal and postnatal care.