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本文对枣庄地区1950例遗传咨询者进行外周血细胞培养,常规染色体制备,G显带核型分析,共检出异常核型175例,异常率为8.97%(175/1950),异常核型涉及到三体型、单体型、罗伯逊易位、不平衡重排等。受检者中不良孕产史1125例,检出异常核型89例,占异常核型的51%(89/175);不同程度的智力低下356例,异常核型54例,占异常核型的31%(54/175);不孕不育469例,异常核型32例,占异常核型的18%(32/175)。结果表明,染色体核型分析对不良孕产史、智力低下、不孕不育等疾病的诊断具有重要意义,并且与D、G组短臂变异和Y染色体长度变异也有一定的相关性,应引起临床上高度重视。
In this paper, 1950 cases of genetic counseling Zaozhuang peripheral blood cell culture, conventional chromosome preparation, G-band karyotype analysis, a total of 175 cases of abnormal karyotype detected, the abnormal rate was 8.97% (175/1950), abnormal karyotype involved Trisomy, haplotype, Robertson translocation, unbalanced rearrangement and so on. A total of 1125 cases of unhealthy pregnancy were detected in the subjects, 89 cases of abnormal karyotypes were detected, accounting for 51% (89/175) of abnormal karyotypes; 356 cases of different levels of mental retardation, 54 cases of abnormal karyotypes, accounting for abnormal karyotype (54/175). There were 469 cases of infertility and 32 cases of abnormal karyotype, accounting for 18% (32/175) of abnormal karyotype. The results showed that the karyotype analysis was of great significance for the diagnosis of poor pregnancy history, mental retardation, infertility and other diseases, and also had some correlation with short arm variation and Y chromosome length variation in D and G groups, which should be caused Clinicians attach great importance.