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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 #7513: (a, b, c) ambiguous external genitalia: rudimentary penis and vulva; (d) histology of gonads: testes with sparse seminiferous tubules, hypertrophic Sertoli cells, numerous Leydig cells and lack of germinal epithelial cells; FISH with X (red) and Y (green) chromosome painting probes showing two cell lines: 38,XX (e) and 38,XY (f) in lymphocytes; (g) estimation of the Y/X ratio based on proportion of AMELY and AMELX genes in blood leukocytes (#7513B) and fibroblasts (#7513F). The upper chart shows amplification signals from chromosome X (green color) and Y (blue color). In fibroblasts of case #7513 (#7513F) the signal was detected from chromosome X only. Both signals were detected in blood leukocytes (#7513B). On the lower chart, an Y/X ratio of approximately 0.5 was detected in blood leukocytes (#7513B), indicating the presence of two cell lines. In fibroblasts of DSD case #7513 (#7513F) and in a control female (FM), the lack of Y chromosome resulted in a Y/X ratio of = 0, while a Y/X ratio of approximately 1 was detected in a control male (M); NC: negative control.