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目的 总结和探讨 1 550例遗传咨询者中染色体异常的发生情况。方法 抽取受检者外周血 ,常规微量法培养及制备染色体标本 ,G显带进行核型分析。结果 在 1 550例受检者中共检出染色体异常 87例 ,异常率为 5.61 %。其中有不良孕产史者 833例中 ,染色体异常 34例 ;不孕不育症 1 0 9例中 ,染色体异常 8例 ;闭经及性腺发育不良 1 0 2例中 ,染色体异常 1 9例 ,智能发育不全者 1 72例中 ,染色体异常 2 4例 ;其它 334例中 ,染色体异常 2例。结论 染色体异常与许多生育及发育缺陷有关 ,对这些患者进行染色体检查以明确诊断很有必要
Objective To summarize and discuss the occurrence of chromosomal abnormalities in 1 550 genetic counselors. Methods Peripheral blood was collected from the subjects and cultured by conventional micro-method. Chromosome samples were prepared and G-banding was performed for karyotype analysis. Results Of the 1 550 subjects, 87 chromosomal abnormalities were detected, with an abnormal rate of 5.61%. Among them, 833 cases of poor pregnancy history had chromosomal abnormalities in 34 cases, 1 case of infertility in 109 cases, 8 cases of chromosomal abnormalities, 10 cases of amenorrhea and dysplasia of gonad, 19 cases of chromosomal abnormalities, Among the 72 cases with hypoplasia, 24 were chromosomal abnormalities. Among the other 334 cases, chromosomal abnormalities were found in 2 cases. Conclusions Chromosomal abnormalities are associated with many reproductive and developmental defects and it is necessary for these patients to have a chromosomal test to confirm the diagnosis