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. 2020 Aug 7;10:13314. doi: 10.1038/s41598-020-69967-z

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© The Author(s) 2020

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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Initial validation of results and identification of aneuploid chromosomes. (a) Sex determination using standard PCR with primers for Sex determining Region of Y (SRY; Y chromosome; 131 bp) and Androgen Receptor (AR; X chromosome; 293 bp) validated the X chromosome copy number status. Confirmed male and female equines as positive controls, and ddH₂O as no template control (NTC). *200 bp band on low MW ladder. (b) Examples of whole genome copy number visualisation with Integrative Genomics Viewer. Chromosome number is displayed horizontally across the top axis, with the centre horizontal line indicating a copy number of 2 (diploid). Allantochorion of (I) female trisomy 1 EPL, (II) female monosomy 27 EPL, and (III) male diploid CNP, along with (IV) male diploid term chorioallantois and (V) female adult peripheral blood mononuclear cells. (c–h) Analysis of chromosome characteristics comparing (c,f) chromosome length, (d,g) the total number of genes, and (e,h) the gene density per chromosome. Top panel compares the autosomal chromosomes that were found to be aneuploid within the EPL subpopulation of this study to those not identified as involved in aneuploidy (n = 31 for each graph). Bottom panel compares characteristics of aneuploid autosomal chromosomes previously reported in live born equines^21–27 with those unique EPLs in this study (n = 10 per graph). Mean with standard deviation plotted.