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. 2023 Jun 2;15(11):3039. doi: 10.3390/cancers15113039

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© 2023 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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Optical genome mapping selected cases: circos plot and SV analysis. (A) Circos plot showing a complex event with t(2;11)(q37.1;q23.2) and t(7;11)(q31.31;q24.1) and with material losses in adjacent regions with a trisomy of chromosome 8 (patient #10); (B) gain of material in region 1q21.1q44, loss of material in region 7q11.21q36.3, and trisomy of chromosome 9 (patient #5); (C) translocation t(7;13)(q34;q14.2) with material losses in adjacent regions and deletion of 20q11.21q11.22 (patient #11); (D) deletion in region 4q24 involving a homozygous deletion of TET2 (patient #6); (E) KDM2B::TP53 gene fusion resulting from t(12;17)(q24.31;p13.1) (patient #4).