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. 2021 Jan 22;14:26. doi: 10.1186/s12920-020-00849-z

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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 — Graphs represent results analyzed by Multiplex ligation-dependent probe amplification (MLPA) in three cases and one normal control. X-axis represents MLPA probes (genes) and y-axis represents probe dosage quotient. The blue line indicates probe dosage quotient of 1.35 and any probes above this line represent duplication. The red line indicates probe dosage quotient of 0.65 and any probes below this line represent deletion. The probes between 0.85 and 1.15 are considered as normal controls. a A control with normal copy probes. b A patient carries typical deletion from CLTCL1 to LZTR1 (LCR22 A-D). LCR, low copy repeats. c A patient carries deletion from CLTCL1 to DGCR8 (LCR22 A-B). d A patient carries atypical smaller duplication from ZNF74 to LZTR1 (LCR22 B-D)

Fig. 2 — Graphs represent results analyzed by Multiplex ligation-dependent probe amplification (MLPA) in three cases and one normal control. X-axis represents MLPA probes (genes) and y-axis represents probe dosage quotient. The blue line indicates probe dosage quotient of 1.35 and any probes above this line represent duplication. The red line indicates probe dosage quotient of 0.65 and any probes below this line represent deletion. The probes between 0.85 and 1.15 are considered as normal controls. a A control with normal copy probes. b A patient carries typical deletion from CLTCL1 to LZTR1 (LCR22 A-D). LCR, low copy repeats. c A patient carries deletion from CLTCL1 to DGCR8 (LCR22 A-B). d A patient carries atypical smaller duplication from ZNF74 to LZTR1 (LCR22 B-D)