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. 2021 Feb 15;47:31. doi: 10.1186/s13052-021-00969-x

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© The Author(s) 2021

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. 2 — Pathogenic CNVs of the patient. a It is shown part of array-CGH results of the patient, focusing on the 2.5 Mb deletion on the long arm of chromosome 22 at band q11.21 that involve 43 OMIM genes. b It is represented the 3.6 Mb deletion on the long arm of chromosome 5 at band q21.3q22.2 that involve 12 OMIM genes, including APC. The breakpoints are reported according to the 37 build (March 2009) of the Human Genome Reference consortium (GRch37/hg19)