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. 2023 Sep 14;8:25. doi: 10.1038/s41525-023-00368-7

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© The Author(s) 2023

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 license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license 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 license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 1 — Shown is an overview of the atypical deletion and duplication participants identified in our study. Red bars indicate deletions and blue indicate duplications. 7q11.23 CNVs were identified by chromosomal microarray analysis (CMA) and confirmed by qPCR, using a standard panel of genes across the region. The proximal breakpoint of atypical duplication 3 (Atyp Dup3) was found to be more proximal by qPCR than what was reported by CMA. The region shown as duplicated by qPCR is marked by a dashed line. All other breakpoints were concordant between CMA and qPCR. Included is a representative WBS deletion and the reciprocal duplication characteristic of Dup7.