Purpose Recent studies demonstrate that whole-genome sequencing enables detection of
cryptic rearrangements in apparently balanced chromosomal rearrangements (also known …

The contribution of balanced chromosomal rearrangements to complex disorders remains
unclear because they are not detected routinely by genome-wide microarrays and clinical …

Balanced chromosomal rearrangement (or balanced chromosome abnormality, BCA) is a
common chromosomal structural variation. Next‐generation sequencing has been reported …

With recent rapid advances in genomic technologies, precise delineation of structural
chromosome rearrangements at the nucleotide level is becoming increasingly feasible. In …

High-resolution genome-wide array analysis enables detailed screening for cryptic and
submicroscopic imbalances of microscopically balanced de novo rearrangements in …

Today, conventional cytogenetics (CC) is the main technique in routine genetic diagnostics
for the analysis of genotype/phenotype correlations. Additionally, fluorescence in situ …

Purpose: The purpose of this study was to test the hypothesis that deletions of varying sizes
in de novo apparently balanced chromosome rearrangements are a significant cause of …

Characterisation of breakpoints in disease-associated balanced chromosome
rearrangements (DBCRs), which disrupt or inactivate specific genes, has facilitated the …

Genomic rearrangements can result in losses, amplifications, translocations and inversions
of DNA fragments thereby modifying genome architecture, and potentially having clinical …

Background Carriers of apparently balanced translocations are usually phenotypically
normal; however in about 6% of de novo cases, an abnormal phenotype is present. In the …