{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:39:02Z","timestamp":1787027942237,"version":"build-2736575974"},"reference-count":40,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2020,9,16]],"date-time":"2020-09-16T00:00:00Z","timestamp":1600214400000},"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>Impaired fertility associated with disorders of sex development (DSDs) due to genetic causes in dogs are more and more frequently reported. Affected dogs are usually of specific breeds thus representing a cause of economic losses for breeders. The aim of this research is to report the clinical, cytogenetic and molecular genetic findings of four XX SRY-negative DSD dog cases. All the subjects showed a female aspect and the presence of an enlarged clitoris with a penis bone. Morphopathological analyses performed in three of the four cases showed the presence of testes in two cases and ovotestis in another. Conventional and R-banded cytogenetic techniques were applied showing that no chromosome abnormalities were involved in these DSDs. CGH arrays show the presence of 11 copy number variations (CNVs), one of which is a duplication of 458 Kb comprising the genomic region between base 17,503,928 and base 17,962,221 of chromosome 9 (CanFam3 genome assembly). This CNV, confirmed also by qPCR, includes the promoter region of SOX9 gene and could explain the observed phenotype.<\/jats:p>","DOI":"10.3390\/ani10091667","type":"journal-article","created":{"date-parts":[[2020,9,16]],"date-time":"2020-09-16T10:30:12Z","timestamp":1600252212000},"page":"1667","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Analysis of XX SRY-Negative Sex Reversal Dogs"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4018-8007","authenticated-orcid":false,"given":"Sara","family":"Albarella","sequence":"first","affiliation":[{"name":"Department of Veterinary Medicine and Animal Production, University of Naples Federico II, via Delpino 1, 80137 Naples,  Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa De","family":"Lorenzi","sequence":"additional","affiliation":[{"name":"Department of Agricultural and Environmental Sciences, Milano University, via Celoria 2, 20133 Milan,  Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Rossi","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, Pavia University, via Forlanini 12, 27100 Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0399-1239","authenticated-orcid":false,"given":"Francesco","family":"Prisco","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medicine and Animal Production, University of Naples Federico II, via Delpino 1, 80137 Naples,  Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marita Georgia","family":"Riccardi","sequence":"additional","affiliation":[{"name":"Experimental Zooprophylactic Institute of Southern Italy, via Salute 2, 80055 Portici, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brunella","family":"Restucci","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medicine and Animal Production, University of Naples Federico II, via Delpino 1, 80137 Naples,  Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9881-1420","authenticated-orcid":false,"given":"Francesca","family":"Ciotola","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medicine and Animal Production, University of Naples Federico II, via Delpino 1, 80137 Naples,  Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pietro","family":"Parma","sequence":"additional","affiliation":[{"name":"Department of Agricultural and Environmental Sciences, Milano University, via Celoria 2, 20133 Milan,  Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,9,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/j.jevs.2018.06.016","article-title":"Diagnosis of XX\/XY Blood Cell Chimerism at a Low Percentage in Horses","volume":"69","author":"Albarella","year":"2018","journal-title":"J. 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