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目的通过对7816例因反复流产、不孕不育、生长发育迟缓等患者进行外周血染色体检查结果统计分析,进一步探讨染色体罗伯逊易位的临床意义及指导临床治疗。方法采用外周血淋巴细胞染色体培养技术,通过G显带,核型分析。结果外周血染色体检查共计检测出67例染色体罗伯逊易位,其中以Rob(13q14q)和Rob(14q21q)为主,分别占65.6%(44/67)和13.4%(9/67)。结论染色体罗伯逊易位是导致反复流产、不良孕产史、不孕不育和身材矮小等的重要遗传因素。同时染色体罗伯逊易位可遗传给后代,应做好产前诊断。
Objective To investigate the clinical significance of Chromosome Robertson’s translocation and to guide the clinical treatment by analyzing 7816 cases of peripheral blood chromosomal abnormalities caused by repeated miscarriage, infertility and growth retardation. Methods Peripheral blood lymphocyte chromosome culture technology, through G banding, karyotype analysis. Results A total of 67 chromosomal Robertson translocations were detected in peripheral blood chromosomes. Among them, Rob (13q14q) and Rob (14q21q) accounted for 65.6% (44/67) and 13.4% (9/67), respectively. Conclusion Chromosomal Robertson’s translocation is an important genetic factor leading to recurrent miscarriage, poor pregnancy history, infertility and short stature. At the same time the chromosome Robertson translocation can be passed on to offspring, prenatal diagnosis should be done.