Apparently balanced chromosomal rearrangements in individuals with major congenital
anomalies represent natural experiments of gene disruption and dysregulation. These …

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 …

Investigations of apparently balanced chromosomal rearrangements in patients with
abnormal phenotype by molecular cytogenetics tools, especially by array CGH, revealed a …

▪ Abstract Cytogenetic imbalance in the newborn is a frequent cause of mental retardation
and birth defects. Although aneuploidy accounts for the majority of imbalance, structural …

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

Objective: To describe the systematic analysis of constitutional de novo apparently balanced
translocations in patients presenting with abnormal phenotypes, characterise the structural …

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 …

Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their
characterization has largely been restricted to cytogenetic resolution. We explored the …

There is an assumption of parsimony with regard to the number of chromosomes involved in
rearrangements and to the number of breaks within those chromosomes. Highly complex …

Background Congenital chromosome abnormalities are relatively common in our species
and among structural abnormalities the most common class is balanced reciprocal …