Boué J, Boué A
Cytogenet Cell Genet. 1978;20(1-6):213-25. doi: 10.1159/000130853.
Among 900 couples referred for prenatal diagnosis, the indication was a parental balanced structural chromosome anomaly in 94, of which 39 were Robertsonian translocations, 38 reciprocal translocations, and 17 pericentric inversions. Six fetuses were unbalanced. The methods of ascertainment of the anomaly in these couples and the gametic segregation transmitted to the concepti are analyzed. A de novo unbalanced structural anomaly was detected in fetal cells in 6 diagnoses performed in couples referred for indications other than chromosomal.
在900对接受产前诊断的夫妇中,94对的指征是父母一方存在染色体结构平衡异常,其中39例为罗伯逊易位,38例为相互易位,17例为臂间倒位。6例胎儿出现染色体不平衡。分析了这些夫妇中异常情况的确定方法以及传递给胎儿的配子分离情况。在因非染色体相关指征前来就诊的夫妇所进行的6次诊断中,在胎儿细胞中检测到了新发的染色体结构不平衡异常。