{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T08:32:14Z","timestamp":1771230734953,"version":"3.50.1"},"reference-count":20,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2021,1,23]],"date-time":"2021-01-23T00:00:00Z","timestamp":1611360000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Animals"],"abstract":"<jats:p>In this study, we describe an eighteen-month-old Holstein\u2013Friesian heifer with a deformed vulva, located abdominally. The heifer showed typical signs of estrus. A comprehensive anatomical and histopathological examination revealed a blind-ended vagina and an additional section of urethra, which became a part of the shortened penis. Cytogenetic analysis showed the presence of two cell lines: 60,XX and 90,XXY. The frequency of the triploid cell line was low (3%) in leukocytes and elevated (35%) in fibroblasts. The molecular detection of Y-linked genes (SRY and AMELY) in the blood, skin, hair follicles, and buccal epithelial cells confirmed the presence of a cell line carrying the Y chromosome. Genotyping of 16 microsatellite markers in DNA isolated from hair follicles and fibroblast culture showed the presence of one (homozygous) or two variants (heterozygous) at all the studied loci, and allowed chimerism to be excluded. We concluded that the heifer had diploid\/triploid (60,XX\/90,XXY) mosaicism. To our knowledge, this is only the fifth such case to be reported worldwide in this species. Since cytogenetic studies are routinely performed on in vitro cultured leukocytes, we suspect that the prevalence of this chromosome abnormality is underestimated, as it is known from published reports that the frequency of the triploid cell line is usually very low in leukocytes.<\/jats:p>","DOI":"10.3390\/ani11020285","type":"journal-article","created":{"date-parts":[[2021,1,25]],"date-time":"2021-01-25T02:07:00Z","timestamp":1611540420000},"page":"285","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["A Disorder of Sex Development in a Holstein\u2013Friesian Heifer with a Rare Mosaicism (60,XX\/90,XXY): A Genetic, Anatomical, and Histological Study"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4238-0414","authenticated-orcid":false,"given":"Izabela","family":"Szczerbal","sequence":"first","affiliation":[{"name":"Department of Genetics and Animal Breeding, Poznan University of Life Sciences, 60-637 Poznan, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5942-6191","authenticated-orcid":false,"given":"Marcin","family":"Komosa","sequence":"additional","affiliation":[{"name":"Department of Animal Anatomy, Poznan University of Life Sciences, 60-625 Poznan, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1041-3576","authenticated-orcid":false,"given":"Joanna","family":"Nowacka-Woszuk","sequence":"additional","affiliation":[{"name":"Department of Genetics and Animal Breeding, Poznan University of Life Sciences, 60-637 Poznan, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9748-7510","authenticated-orcid":false,"given":"Tomasz","family":"Uzar","sequence":"additional","affiliation":[{"name":"Department of Animal Anatomy, Poznan University of Life Sciences, 60-625 Poznan, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marek","family":"Houszka","sequence":"additional","affiliation":[{"name":"Department of Preclinical Sciences and Infectious Diseases, Poznan University of Life Sciences, 60-637 Poznan, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jerzy","family":"Semrau","sequence":"additional","affiliation":[{"name":"Center for Animal Health and Reproduction, 88-200 Radziejow, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Magdalena","family":"Musial","sequence":"additional","affiliation":[{"name":"Center for Animal Health and Reproduction, 88-200 Radziejow, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michal","family":"Barczykowski","sequence":"additional","affiliation":[{"name":"Center for Animal Health and Reproduction, 88-200 Radziejow, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Lukomska","sequence":"additional","affiliation":[{"name":"Department of Preclinical Sciences and Infectious Diseases, Poznan University of Life Sciences, 60-637 Poznan, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2539-9508","authenticated-orcid":false,"given":"Marek","family":"Switonski","sequence":"additional","affiliation":[{"name":"Department of Genetics and Animal Breeding, Poznan University of Life Sciences, 60-637 Poznan, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,1,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1159\/000448361","article-title":"Sex reversal in non-human placental mammals","volume":"10","author":"Parma","year":"2016","journal-title":"Sex. 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