Kim H J, Kousseff B G, Hsu L Y, Hirschhorn K
Obstet Gynecol. 1975 Feb;45(2):220-2.
A balanced reciprocal translocation involving the long arms of a No. 4 and a No. 11 chromosome, t(4;11) (q25;q13), was found in a mother who had one spontaneous first trimester abortion and 2 abnormal infants, as well as in her 2 phenotypically normal children. This translocation was not detectable by conventional karotyping since the two exchanged chromosome segments are almost identical in size; it was demonstrated by the new banding technic which allow us to recognize and to identify each chromosome and its segments accurately.
在一位有过一次孕早期自然流产、两个异常婴儿以及两个表型正常孩子的母亲身上,发现了涉及4号和11号染色体长臂的平衡相互易位,核型为t(4;11)(q25;q13)。由于两条相互交换的染色体片段大小几乎相同,这种易位通过传统的核型分析无法检测到;它是通过新的显带技术证实的,该技术使我们能够准确识别和鉴定每条染色体及其片段。