ArticlePLoS genetics2018
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.
Article in PLoS genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed.
- De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype-Phenotype Correlation and Development of a CGR Detection Pipeline.American journal of medical genetics. Part A · 2026Article
- Centromeric instability and chromoanasynthesis observed in nine supernumerary marker chromosomes resolved with long-read genome sequencing.Genome research · 2026Article
- Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications.Genome medicine · 2025Article
- Chromothripsis.Methods in molecular biology (Clifton, N.J.) · 2025Review
- The Evolutionary Potential of Chromoanagenesis.Methods in molecular biology (Clifton, N.J.) · 2025Article
- Structural and Mechanistic Diversity of Constitutional Chromoanagenesis.Methods in molecular biology (Clifton, N.J.) · 2025Article
- Complex chromosomal rearrangements in female carriers experiencing recurrent pregnancy loss or poor obstetric history and literature review.Journal of assisted reproduction and genetics · 2025Review
- A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities.Genome research · 2024Article
- Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing.Genome research · 2024Article
- Analysis of complex chromosomal rearrangement involving chromosome 6 via the integration of optical genomic mapping and molecular cytogenetic methodologies.Journal of human genetics · 2024Article
- A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements.Genetics in medicine open · 2024Article
- Methods of Detection and Mechanisms of Origin of Complex Structural Genome Variations.Methods in molecular biology (Clifton, N.J.) · 2024Review
- Complex genomic rearrangements: an underestimated cause of rare diseases.Trends in genetics : TIG · 2022Review
- Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier.Human genetics · 2021Article
- Chromothripsis and Duplications as Underappreciated Genomic Gremlins.Molecular syndromology · 2020Article
- Cytogenetically visible inversions are formed by multiple molecular mechanisms.Human mutation · 2020Article
- Copy number variations and constitutional chromothripsis (Review).Biomedical reports · 2020Review
- Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome.American journal of medical genetics. Part A · 2020Article
- Genomic Earthquakes in the Human Germline and Their Ramifications.Molecular syndromology · 2020Article
- Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20.Case reports in genetics · 2020Article
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Authors and funding
24 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Clustered copy number variants (CNVs) as detected by chromosomal microarray analysis (CMA) are often reported as germline chromothripsis. However, such cases might need further investigations by massive parallel whole genome sequencing (WGS) in order to accurately define the underlying complex rearrangement, predict the occurrence mechanisms and identify additional complexities. Here, we utilized WGS to delineate the rearrangement structure of 21 clustered CNV carriers first investigated by CMA and identified a total of 83 breakpoint junctions (BPJs). The rearrangements were further sub-classified depending on the patterns observed: I) Cases with only deletions (n = 8) often had additional structural rearrangements, such as insertions and inversions typical to chromothripsis; II) cases with only duplications (n = 7) or III) combinations of deletions and duplications (n = 6) demonstrated mostly interspersed duplications and BPJs enriched with microhomology. In two cases the rearrangement mutational signatures indicated both a breakage-fusion-bridge cycle process and haltered formation of a ring chromosome. Finally, we observed two cases with Alu- and LINE-mediated rearrangements as well as two unrelated individuals with seemingly identical clustered CNVs on 2p25.3, possibly a rare European founder rearrangement. In conclusion, through detailed characterization of the derivative chromosomes we show that multiple mechanisms are likely involved in the formation of clustered CNVs and add further evidence for chromoanagenesis mechanisms in both "simple" and highly complex chromosomal rearrangements. Finally, WGS characterization adds positional information, important for a correct clinical interpretation and deciphering mechanisms involved in the formation of these rearrangements.
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