父源嵌合型t(13;13)导致胚胎染色体不平衡和流产  

Paternal mosaicism t (13:13) resulted in an embryonic chromosomal imbalance and abortion.

作　　者：张爱琴[1] 崔英霞[2] 王咏梅[2] 黄宇烽[2] 

机构地区：[1]河南省中医学院第一附属医院检验科 [2]南京军区南京总医院生殖遗传研究室,210002

出　　处：《中国优生与遗传杂志》2005年第4期52-53,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的　报告1例嵌合型的t(13;13)致妻5次流产的男性携带者,并对胚胎流产的原因进行讨论。方法　对流产胚胎组织进行15个DNA短串联重复序列分析。结果　t(13;13)携带者的流产胚胎检测D13S317位点和D13S2 5 8位点都仅有1个源自母亲微卫星标志物。未提示有其它染色体不平衡。结论　嵌合型的t(13;13)携带者这次胚胎流产原因是由于13号染色体不平衡所致。Objective: We reported in the paper a male carrier of mosaic karytype 45,XY, t(13;13)/46,XY resulted in his wife of five spontaneous abortions and discussed the cause of this pregnancy loss. Methods: 15 short- tandem-repeat (STR) microsatellite marker loci were analyzed to evaluate the parents' genetic contribution to the aborted embryo. Results: Only an allele from the mother was found from the aborted embryonic tissues in locus D13S317 and D13S258. Conclusion: imbalenced chromosome 13 of the embryo is the cause of his abortion.

关 键 词：短串联重复序列 流产胚胎 染色体不平衡 男性携带者 

分 类 号：R714.2[医药卫生—妇产科学]