Nakagome Y
Am J Hum Genet. 1982 Mar;34(2):182-94.
Reported cases with a structurally abnormal X chromosome were compiled. These included 17 balanced and 26 unbalanced X-autosome translocations, each with inactivation of either a derivative X or a derivative of any of the autosomes. A further 52 cases with various structural rearrangements were studied. The shortest late-replicating segment in each arm pter leads to p21 and q13 leads to qter. In both cases, they were detected in all or most metaphases, thus making the results convincing. In one case, the distal part of Xq, q25 or 26 leads to qter was probably inactivated in a small proportion of the cells. It appears reasonable to assume that the former two segments and probably also the third include an "inactivation center(s)." In a male with a 46,Y,dup(X)(q13q22), no part of dup X replicated late although it contained extra chromosome material.
收集了具有结构异常X染色体的报告病例。其中包括17例平衡型和26例不平衡型X-常染色体易位,每种易位中衍生X染色体或任何一条常染色体的衍生染色体均发生失活。另外还研究了52例具有各种结构重排的病例。每个臂中从短臂末端到p21以及从长臂的q13到末端的最短晚复制区段。在这两种情况下,它们在所有或大多数中期细胞中均被检测到,因此结果令人信服。在1例病例中,Xq远端部分(q25或26至末端)可能在一小部分细胞中发生了失活。假定前两个区段以及可能第三个区段也包含一个“失活中心”似乎是合理的。在一名具有46,Y,dup(X)(q13q22)的男性中,dup X的任何部分均未发生晚复制,尽管它含有额外的染色体物质。