Cytogenetic studies of a patient with mosaicism of isochromosome 13q and a dicentric (Y;13) translocation showing differential centromeric activity

Abstract

A case is presented in which both an isochromosome and a dicentric translocation with differential centromere activity are found in one individual. Three karyotypes are present: 46,XY, -13, + i(13q)/45,X, -13, + psu dic(13)t(13;Y)/45,X, -13, + psu dic(Y)t(Y;13). The isochromosome 13q is found in 23% of cells in blood and 5% in skin. The dicentric (Y;13) chromosome in all of the remaining cells displays differential centromeric activity; the ratio of cells with the active 13 centromere to the active Y centromere is about 3.5:1. The formation of the isochromosome 13q was a de novo gametic event. The translocation producing the dicentric occurred after fertilization with the breakpoints at band Yq12 and the juxta-centromeric region of the isochromosome 13. The finding of differential centromeric activity in this chromosome indicates that centromere inactivation is not always permanent in a dicentric translocation.