Cytogenomic characterization of karyotypes with additional autosomal material.

ABSTRACT: Chromosomal rearrangements involving additional material in individuals with phenotypic alterations usually result in partial trisomy, often accompanied by partial monosomy. To characterize chromosomal rearrangements and analyze genomic characteristics in the breakpoint regions in 31 patients with additional material on an autosomal chromosome. Different tests were performed to characterize these patients, including karyotyping, chromosomal microarray analysis (CMA), and fluorescent in situ hybridization (FISH). In silico analyses evaluated A/B chromosomal compartments, segmental duplications, and repetitive elements at breakpoints. The 31 rearrangements resulted in 47 copy number variations (CNVs) and a range of structural aberrations were identified, including six tandem duplications, 19

SUBMITTER: Rodrigues PS 

PROVIDER: S-EPMC11982272 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature