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. 2022 Oct 24;12:17807. doi: 10.1038/s41598-022-21718-y

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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 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/.

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Characteristics of DSD case #7318: (a) tricolored coat pattern; (b) male external genitalia with bifid scrotum; (c) histology of gonads: testes with seminiferous tubules with normal Sertoli cells, normal Leydig cells, and lack of germinal cells; (d) FISH showing the SRY gene (green) on the X chromosome (red); (e) detection of genes translocated on the X chromosome. The Yp-linked genes were amplified for the DSD cat (SRY, HSFY, CYORF15, TETY2, ZFY) and the Yq-linked genes were absent (CUL4BY, TETY1 and FLJ36031Y). L: 100–1000 bp ladder, DSD case #7318, M: control male; FM: control female; 0: negative control; (f) random inactivation pattern of X chromosomes in case #7318 and two control females, FM1 and FM2.