Patterns of meiotic chromosome segregation were analyzed in cleavage stage and blastocyst stage human embryos from couples with autosomal reciprocal translocations (ART). The influence of quadrivalent asymmetry degree, the presence of terminal breakpoints, and the involvement of acrocentric chromosomes in the rearrangement were analyzed to evaluate their contribution to the formation of non-viable embryos with significant chromosomal imbalance due to pathological segregation patterns and to assess the selection of human embryos by the blastocyst stage. A selection of viable embryos resulting from alternate and adjacent-1 segregation and a significant reduction in the detection frequency of the 3 : 1 segregation pattern were observed in human embryos at the blastocyst stage. The presence of terminal breakpoints increased the frequency of 3 : 1 segregation and was also associated with better survival of human embryos resulting from adjacent-1 mode, reflecting the process of natural selection of viable embryos to the blastocyst stage. The demonstrated patterns of chromosome segregation and inheritance of a balanced karyotype in humans will contribute to optimizing the prediction of the outcomes of in vitro fertilization programs and assessing the risks of the formation of unbalanced embryos for ART carriers.

中文翻译：

---

通过分析来自相互易位载体的人类植入前胚胎来评估影响染色体分离的四价特征

 对常染色体相互易位 (ART) 夫妇的卵裂期和囊胚期人类胚胎的减数分裂染色体分离模式进行了分析。分析四价不对称程度、末端断点的存在以及近端着丝粒染色体参与重排的影响，以评估它们对由于病理分离模式而导致显着染色体不平衡的无法存活胚胎的形成的贡献，并评估选择人类胚胎到囊胚阶段。在囊胚阶段的人类胚胎中观察到由交替和相邻 1 分离产生的可存活胚胎的选择以及 3:1 分离模式的检测频率显着降低。末端断点的存在增加了 3:1 分离的频率，并且还与相邻 1 模式导致的人类胚胎更好的存活相关，反映了存活胚胎自然选择到囊胚阶段的过程。人类染色体分离和平衡核型遗传的已证实模式将有助于优化体外受精计划结果的预测，并评估 ART 携带者形成不平衡胚胎的风险。