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. 2022 Jul 29;14(15):3715. doi: 10.3390/cancers14153715

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© 2022 by the authors.

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).

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Example of a case with chromothripsis that shows multiple rearrangements with other chromosomes when analyzed by optical genome mapping. Overall, the karyotype of this patient presented a high complexity, with several bits of additional material found in different chromosomes and a few chromosome markers (case #16). Chromosome 12 displayed monosomy by CBA (highlighted in red in the karyotype) but when analyzed by GM and OGM, this chromosome showed an identical pattern of chromothripsis, with >10 switches between 2–3 copy number states. In addition, OGM identified several rearrangements among different chromosomes, as shown in the Circos plot depicted at the bottom of the figure. This highly complex profile could be associated with another catastrophic phenomenon known as chromoplexy, characterized by the presence of multiple chained translocations. Those additional chromosomes associated with chromothriptic events are highlighted in bold in the karyotype.

Example of a case with chromothripsis that shows multiple rearrangements with other chromosomes when analyzed by optical genome mapping. Overall, the karyotype of this patient presented a high complexity, with several bits of additional material found in different chromosomes and a few chromosome markers (case #16). Chromosome 12 displayed monosomy by CBA (highlighted in red in the karyotype) but when analyzed by GM and OGM, this chromosome showed an identical pattern of chromothripsis, with >10 switches between 2–3 copy number states. In addition, OGM identified several rearrangements among different chromosomes, as shown in the Circos plot depicted at the bottom of the figure. This highly complex profile could be associated with another catastrophic phenomenon known as chromoplexy, characterized by the presence of multiple chained translocations. Those additional chromosomes associated with chromothriptic events are highlighted in bold in the karyotype.