同源串联易位[45,XX,-13,-13,+t(13;13)(q12;q34)]
A homologous tandem translocation [45,XX,-13,-13,+t(13;13) (q12;q34)].
作者信息
Cohen M M, Rosen Y, Gadoth N, Tal A
出版信息
Cytogenet Cell Genet. 1978;20(1-6):155-9. doi: 10.1159/000130847.
PMID:648174
Abstract
Chromosomal investigation of a young girl with mental and motor retardation and congenital anomalies revealed a translocation between both members of pair No. 13. Banding analysis showed that the translocation was "tandem," leading to monosomy for segments in both the long and short arms of No. 13.
摘要
对一名患有智力和运动发育迟缓以及先天性异常的年轻女孩进行染色体检查发现，第13号染色体的两条成员之间发生了易位。染色体带型分析显示，该易位是“串联”的，导致第13号染色体长臂和短臂的部分片段出现单体性。
Zotero 插件