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目的探讨染色体异常核型在遗传咨询者中的发生情况。方法按常规技术方法制备外周血染色体,并对染色体核型进行分析。结果 302例病例中智力低下,发育迟缓异常核型40例,检出率43.01%,不良孕产史异常核型9例,检出率7.89%。不孕不育异常核型4例,检出率5.88%。原发或继发闭经异常核型3例,检出率27.27%。生殖系统发育异常核型3例,检出率33.33%.两性畸形异常核型2例,检出率28.57%。结论对不孕不育、自然流产、畸胎和智力低下患者进行染色体核型分析具有重要意义。
Objective To investigate the occurrence of chromosomal abnormal karyotype in genetic counselors. Methods Peripheral blood chromosomes were prepared by routine techniques and their karyotypes were analyzed. Results Among the 302 cases, there were 40 cases of mental retardation, 40 cases of abnormal development retardation karyotype, the detection rate was 43.01%. There were 9 cases of abnormal pregnancy and karyotype karyotype, the detection rate was 7.89%. Infertility karyotype abnormalities in 4 cases, the detection rate of 5.88%. Primary or secondary amenorrhea karyotype in 3 cases, the detection rate was 27.27%. Three cases of genital dysplasia karyotype, the detection rate was 33.33% .Among the two genital abnormalities karyotype in 2 cases, the detection rate was 28.57%. Conclusions It is of great significance to carry out karyotype analysis on infertility, spontaneous abortion, teratospermia and mental retardation.