Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes.

ABSTRACT: Balanced chromosomal rearrangements (BCR) are associated with abnormal phenotypes in approximately 6% of balanced translocations and 9.4% of balanced inversions. Abnormal phenotypes can be caused by disruption of genes at the breakpoints, deletions, or positional effects. Conventional cytogenetic techniques have a limited resolution and do not enable a thorough genetic investigation. Molecular techniques applied to BCR carriers can contribute to the characterization of this type of chromosomal rearrangement and to the phenotype-genotype correlation. Fifteen individuals among 35 with abnormal phenotypes and BCR were selected for further investigation by molecular techniques. Chromosomal rearrangements involved 11 reciprocal translocations, 3 inversions, and 1 balanced insertion. Array genom

SUBMITTER: Simioni M 

PROVIDER: S-EPMC5498958 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature