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. 2021 Sep 30;53(10):1434–1442. doi: 10.1038/s41588-021-00930-y

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© The Author(s) 2021

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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Extended Data Fig. 2 — B-allele frequencies (BAF) of SNP sites for intestinal crypts with two copies of the X-chromosome (a) or three (b). Seven crypts exhibited the disomy, whereas one crypt and the majority of blood showed the trisomy. (c) The mean BAF of SNPs for samples with a disomic profile versus those with a trisomic profile. SNPs clustered in six distinct groups: those absent from all samples (marked with ‘1’), homozygously present across all samples (2), heterozygous in disomy but in one out of three copies in trisomy (3), heterozygous in disomy but on two copies in trisomy (4), absent from disomy but on one copy in trisomy (5) or homozygous in disomy but on two copies in trisomy (6). The last two clusters are inconsistent with an acquired gain of chromosome X, as they constitute bringing in novel germline SNPs or omission of those previously homozygotic. (d) Therefore, this profile can only be explained by a zygote which possessed three copies of X, one of which was mosaically lost in the crypt lineage.