Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes.

ABSTRACT: Precise breakpoint mapping of balanced chromosomal rearrangements is crucial to identify disease etiology. Ten female patients with X-autosome balanced translocations associated with phenotypic alterations were evaluated, by mapping and sequencing their breakpoints. The rearrangements' impact on the expression of disrupted genes, and inferred mechanisms of formation in each case were assessed. For four patients that presented one of the chromosomal breaks in heterochromatic and highly repetitive segments, we combined cytogenomic methods and short-read sequencing to characterize, at nucleotide resolution, breakpoints that occurred in reference genome gaps. Most of rearrangements were possibly formed by non-homologous end joining and have breakpoints at repeat elements. Seven genes were foun

SUBMITTER: Moyses-Oliveira M 

PROVIDER: S-EPMC6461923 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature