Pilip L Ia, Spinenko L A, Zukin V D, Bil'ko N M
Tsitol Genet. 2014 May-Jun;48(3):48-53.
Meiotic segregation of chromosomes 13 and 14 was assessed by fluorescence in situ hybridization on sperm of five heterozygous carriers of the most frequent Robertsonian translocation der(13;14). Alternate segregation mode was predominant (mean 78.2 +/- 5.7%). The prevalence of balanced sperm varied from 69.4 to 86.5%. Adjacent segregation mode was detected in 18.64 +/- 4.90% of sperm; 3:0 mode was detected in 2.48 +/- 1.20% of sperm. These results are informative for reproductive counseling of Robertsonian translocation der(13;14) carriers, providing information for assessment of probability of receiving normal/balanced embryos in assisted reproduction cycles.
通过荧光原位杂交技术,对5名最常见的罗伯逊易位der(13;14)杂合携带者的精子进行检测,评估13号和14号染色体的减数分裂分离情况。交替分离模式占主导地位(平均为78.2 +/- 5.7%)。平衡精子的发生率在69.4%至86.5%之间。在18.64 +/- 4.90%的精子中检测到相邻分离模式;在2.48 +/- 1.20%的精子中检测到3:0模式。这些结果对罗伯逊易位der(13;14)携带者的生殖咨询具有参考价值,可为辅助生殖周期中获得正常/平衡胚胎的概率评估提供信息。