Supplementary Material for: A New Case of an Inherited Reciprocal Translocation in Cattle: rcp(13;26)(q24;q11)

This study reports on a unique balanced reciprocal chromosome translocation detected in a phenotypically normal cattle dam and her calf. CBG-, GTG-banding and FISH using bovine whole-chromosome and telomere probes were applied. The analyses showed that the breakpoints were located near to the centromere in chromosome 26 (q11) and exceptionally close to the telomere in chromosome 13 (q24). The whole euchromatin segment of chromosome 26 was translocated onto chromosome 13. The distal end of chromosome 13 was translocated to the subcentromeric region of chromosome 26. We describe this aberration as a balanced reciprocal translocation rcp(13;26)(q24;q11). It appears that this aberration was maternally derived and may have originated de novo in the dam.

本研究报道了一例在表型正常的母牛及其犊牛中检测到的独特平衡相互染色体易位（balanced reciprocal chromosome translocation）。本研究采用CBG显带、GTG显带技术，以及使用牛全染色体探针与端粒探针的荧光原位杂交（FISH）技术进行分析。结果显示，26号染色体的断裂位点位于着丝粒附近的q11区，而13号染色体的断裂位点则异常靠近端粒的q24区。26号染色体的全部常染色质片段易位至13号染色体上，13号染色体的远端片段则易位至26号染色体的亚着丝粒区域。我们将该染色体畸变命名为平衡相互易位rcp(13;26)(q24;q11)。该畸变似乎为母系起源，且可能在母牛体内新发产生。