1.This is one of the few cases reported with terminal translocations (not jumping) preserving the subtelomeric region and highlights the importance of subtelomeric probes in terminal arrangements, and the utility of molecular probes, such as MLPA in defining this kind of abnormalities.
这是少数报道的末端易位(非跳跃)保留端粒区域的病例之一，并强调了端粒探针在末端排列中的重要性，以及分子探针(如MLPA)在定义这种异常中的作用。