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. 2022 Jan 31;67(7):405–410. doi: 10.1038/s10038-022-01018-z

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© The Author(s) 2022

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. 2 — A The patterns found at the two breakpoint junctions (i.e. microhomology, small insertions, large template insertion, deletion at insertion site) resemble typical characteristics that arise due to replication-based repair mechanisms like MMBIR/FoSTes. The proximal breakpoint junction (BP1) comprises two joint points (indicated by asterisks). Location of primers for break point spanning PCR and qPCR. B Pedigree showing our proband (V-3) and his five-generation family with seven affected male neonates. Schematic view of the co-segregation analysis: blue dots indicate presence of the wild type chromosome X, red dots show the presence of the derivative chromosome X. PCR amplification of the proximal breakpoint junction (BP1) (exemplary). CL control locus PCR, gray filled = not consented for testing.