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目的 对 1例罗伯逊易位患者进行植入前胚胎遗传学诊断。方法 应用 Vysis L SI13q14 ,Tel Vysion14 q探针对卵裂球对进行荧光原位杂交分析。结果 荧光原位杂交结果显示 1个胚胎的染色体正常或为携带者 ;7个胚胎染色体异常 ,其中 1个 14三体 ,4个 14三体 13单体 ,2个 13三体 14单体 ;2个胚胎未见明确信号。移植 1个染色体正常或平衡易位的胚胎后 ,孕 10周复查 B超示胎儿发育良好。结论 罗伯逊易位的植入前胚胎遗传学诊断方法有效。
Objective To evaluate the preimplantation embryo genetic diagnosis of a case of Robertsonian translocation. Methods The Vysis L SI13q14 and Tel Vysion14 q probes were used to analyze the blastomere pairs by fluorescence in situ hybridization. Results Fluorescence in situ hybridization showed that the chromosomes of one embryo were normal or carriers. Seven embryos had chromosomal abnormalities, including one 14 trisomy, four 14 trisomy 13 and two 13 trisomy 14. 2 No clear signal of a embryo. Transplant a chromosome normal or balanced translocation of the embryo, 10 weeks pregnant review B shows fetal well-developed. Conclusion Robertson translocation preimplantation embryo genetic diagnosis method is effective.