Davis J R, Weinstein L, Veomett I C, Shenker L, Giles H R, Hauck L
Am J Obstet Gynecol. 1982 Sep 15;144(2):229-33. doi: 10.1016/0002-9378(82)90633-0.
Cytogenetic studies were conducted upon 100 consecutive couples with abortions. Eight balanced carrier translocation karyotypes were discovered (8%): three cases of Robertsonian translocations and five reciprocal translocations. Two structural variant karyotypes and a poly-X mosaic were also found. A review of the literature on repetitive abortion revealed 82 balanced translocations in 1,331 couples, a rate of 6.2%. Cytogenetic studied should be routine for patients with repetitive abortion. In the pooled series, 3.7% of couples with translocation had wastage, including some with normal offspring; 9.2% had malformed offspring; 62% of the carrier couples lacked the malformation history. Seventy-four percent of the translocations were reciprocal; risk rates for imbalanced progeny were undefined for 90% of the carrier couples. Only 11 imbalanced conceptuses were demonstrated cytogenetically in 262 pregnancies of the carrier group.
对100对连续有流产史的夫妇进行了细胞遗传学研究。发现了8种平衡型携带者易位核型（8%）：3例罗伯逊易位和5例相互易位。还发现了2种结构变异核型和1例多X染色体嵌合体。对重复性流产的文献综述显示，在1331对夫妇中有82种平衡易位，发生率为6.2%。细胞遗传学研究应对重复性流产患者进行常规检查。在汇总系列中，3.7%的易位夫妇有流产情况，包括一些有正常后代的夫妇；9.2%有畸形后代；62%的携带者夫妇没有畸形史。74%的易位是相互易位；90%的携带者夫妇不平衡后代的风险率未明确。在携带者组的262次妊娠中，仅通过细胞遗传学证实了11例不平衡胚胎。
