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. 2024 Mar 22;18:29. doi: 10.1186/s40246-024-00600-0

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© The Author(s) 2024

Open Access This 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. 6 — Characterization of the 18q12.3q21.1 microdeletion: a array-CGH image showing the deleted region as a downward shift of oligonucleotide probes (red highlighted). The Deletion breakpoints are mapped within between SETBP1 (left) and downstream ZBTB7C. b Enlargement of the microdeletion terminal portion: WGS detecting four further breakpoints and the preservation of two small regions, identified as 1 and 2. Region 1 results to involved in a rearrangement with der(6), while region 2, orientation inverted, represents the unknown genomic material previously detected by OGM. Genomic positions are reported according to GRCh38 assembly