Different break‐points in Philadelphia chromosome variant translocation and in constitutional and sporadic translocations

Abstract

Three different samples of translocations were considered in an attempt to identify those chromosomal bands preferentially involved in variant Philadelphia chromosome (Ph1) translocations, and to compare them with bands preferentially broken in constitutional and sporadic translocations. The first sample included 204 cases of variant Ph1 translocations with 221 identified break-points (bp), the second consisted of 106 cases of non-Robertsonian constitutional translocations with 213 bp identified, and the third one of 185 bp identified in sporadic translocations found occasionally in single cells of subjects with normal karyotypes and without haematological disorders. A statistical analysis demonstrated that there are some bands preferentially broken in each of the samples, and this with a high level of significance (P less than 0.001). The analysis of the distributions of the chi 2 components permitted us to identify the 12 bands preferentially involved in variant Ph1 translocations and the 13 and 9 bands preferentially involved in constitutional and sporadic translocations, respectively. The comparison among the groups of preferential bp showed that the bands most involved in the three samples are different. Some theoretical problems related to the origin of the Ph1 chromosome are discussed.