Unusual de novo t(13;15)(q12.1;p13) translocation leading to complex mosaicism including jumping translocation.

Abstract

We report on a patient with neurosensory deafness, cataract and moderate mental retardation showing a constitutional mosaicism with the predominant cell line consisting of a 45,XY,-13,-15,+t(13;15) translocation of the Robertsonian type. By means of fluorescence in situ hybridization (FISH) using a panel of acrocentric pericentromeric probes and various banding techniques, the breakpoints in the translocation were determined at 13q12.1 and 15p13 respectively. Five other cell lines were present, at low percentage, one of them showing a t(13;15) tandem translocation. Interstitial telomeric sequences could be detected at the translocation fusion sites in both the Robertsonian and tandem translocations. The mosaicism appears therefore to be a consequence of chromosomal instability involving the t(13;15) fusion region of the predominant cell line, and related to the presence of interstitial telomeric sequences. The present observation suggests that in the pericentromeric 13q12 region, a gene involved in neurosensory deafness may be located.