Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort.

ABSTRACT: We report the analyses of breakpoints in 31 phenotypically normal and 14 abnormal carriers of balanced translocations. Our study assesses the differences between balanced translocations in normal carriers and those in abnormal carriers, focusing on the presence of genomic imbalances at the breakpoints or elsewhere in the genome, presence of cryptic chromosome rearrangements, and gene disruption. Our hypothesis is that all four features will be associated with phenotypic abnormalities and absent or much less frequent in a normal population. In the normal cohort, we identified neither genomic imbalances at the breakpoints or elsewhere in the genome nor cryptic chromosome rearrangements. In contrast, we identified candidate disease-causing imbalances in 4/14 abnormal patients. These were thre

SUBMITTER: Baptista J 

PROVIDER: S-EPMC2427237 | biostudies-literature | 2008 Apr

REPOSITORIES: biostudies-literature