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. 2022 Oct 3;15:42. doi: 10.1186/s13039-022-00620-2

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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 — FISH analysis with commercial probes (a: Bluefish probe of telomere 1q: corresponding to the CEP170 gene and a control probe 1p36 in patient 1, b: green fluorescence probes corresponding to the PLD5 gene and a 1p36 red fluorescence control probe, c: confirmation of the interstitial deletion by performing FISH on the two q telomeres of the two homologous chromosomes 1 in patient 2). The white arrow shows the terminal deletion in patient 1 (a) and the interstitial deletion in patient 2 (b, c)