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A 14q distal chromoanagenesis elucidated by whole genome sequencing
European Journal of Medical Genetics, 2020 International audienceChromoanagenesis represents an extreme form of genomic rearrangements involving multiple breaks occurring on a single or multiple chromosomes. It has been recently described in both acquired and rare constitutional genetic disorders.
Flavie Ader +2 more
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Chromoanagenesis phenomena and their formation mechanisms [PDF]
Cytogenetic and Genome Research, 2021 Chromoanagenesis, a phenomenon characterized by complex chromosomal rearrangement and reorganization events localized to a limited number of genomic regions, includes the subcategories chromothripsis, chromoanasynthesis, and chromoplexy. Although definitions of these terms are evolving, constitutional chromoanagenesis events have been reported in a ...
Franck Pellestor +2 more
exaly +5 more sources
Chromosomal Instability and Chromoanagenesis as Forces for Genomic Evolution
Methods in Molecular BiologyAdvances in sequencing techniques have revealed extreme chromosomal diversity and underscored the importance of chromoanagenesis in macroevolution, speciation, and the context of cancer and tumor progression.
Valentine Comaills
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Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses
American Journal of Medical Genetics, Part A, 2021 AbstractChromosomal microarray analyses (CMA) have greatly increased both the yield and diagnostic accuracy of postnatal analysis; it has been used as a first‐tier cytogenetic test in patients with intellectual disability, autism spectrum disorder, and multiple congenital abnormalities.
Silvia Souza da Costa +2 more
exaly +4 more sources
Clinical Genetics, 2023 International audienceAbstract Chromoanagenesis is a cellular mechanism that leads to complex chromosomal rearrangements (CCR) during a single catastrophic event.
Caroline Schluth-Bolard +2 more
exaly +6 more sources
Origin and Fate of Micronuclei on the Road to Chromoanagenesis
Methods in Molecular BiologyChromoanagenesis defines a group of highly complex chromosome rearrangements restricted to a single or few chromosomes that are suggested to occur in a single catastrophic event. Several experimental findings have connected chromoanagenesis to the formation of micronuclei, small extranuclear chromatin structures harboring a missegregated chromosome or ...
Antonella Russo, Francesca Degrassi
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Chromoanagenesis of chromosome 22 in a subject with obesity and borderline cognitive performance
GeneChromoanagenesis events consist of complex chromosome rearrangements with multiple breakpoints in one or few chromosomes. Mechanisms of chromoanagenesis are split into three major groups: chromothripsis, chromoanasynthesis and chromoplexy.
Catia Mio, Federica Baldan
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A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains
Human Mutation, 2016 Chromoanagenesis is the process by which a single catastrophic event creates complex rearrangements confined to a single or a few chromosomes. It is usually characterized by the presence of multiple deletions and/or duplications, as well as by copy ...
Damien Sanlaville +2 more
exaly +4 more sources
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Chromoanagenesis in plants: triggers, mechanisms, and potential impact
Trends in Genetics, 2023Chromoanagenesis is a single catastrophic event that involves, in most cases, localized chromosomal shattering and reorganization, resulting in a dramatically restructured chromosome. First discovered in cancer cells, it has since been observed in various other systems, including plants.
Isabelle M Henry +2 more
exaly +3 more sources
Structural and Mechanistic Diversity of Constitutional Chromoanagenesis
Methods in Molecular BiologyChromoanagenesis correspond to cataclysmic complex chromosomal rearrangements. They are separated into three categories-chromothripsis, chromoanasynthesis, and chromoplexy-based, among others, on the number of breakpoints, the copy number state, and the molecular signature at junctions.
Caroline Schluth-Bolard +1 more
exaly +3 more sources