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. 2022 Jun 14;15:23. doi: 10.1186/s13039-022-00600-6

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© The Author(s) 2022

Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

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Fig. 3 — Non-Allelic Homologous Recombination (NAHR) mechanism. A NAHR leading to the formation of duplication and deletion: (a) Normal chromosome pairing and alignment of Low Copy Repeats (LCRs) in the same orientation. (b) A misalignment between LCRs due to their high level of sequence identity leads to an unequal crossing over event that can generate (c) a duplication and (d) a deletion. The scheme represents the LCRs of region 22q11.2. NAHR between LCR-A and LCR-B leads to a deletion seen in 8% of the cases of 22q11.2 deletion syndrome. B NAHR leading to the formation of inversions: (a) Normal chromosome pairing and alignment of Low Copy Repeats (LCRs). LCR-X and LCR-Z present similar DNA sequences but in opposite orientations. (b) A misalignment between LCRs due to their high level of sequence identity leads to an unequal crossing over event that can generate (c) an inversion