{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T21:05:51Z","timestamp":1782248751994,"version":"3.54.5"},"reference-count":59,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2024,9,3]],"date-time":"2024-09-03T00:00:00Z","timestamp":1725321600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Genetic evaluation of Pura Raza Espa\u00f1ol horses for functional and morphological characteristics within the framework of the Breed Improvement Program","award":["PRJ202304988"],"award-info":[{"award-number":["PRJ202304988"]}]},{"name":"Genetic evaluation of Pura Raza Espa\u00f1ol horses for functional and morphological characteristics within the framework of the Breed Improvement Program","award":["RYC2021-031781-I"],"award-info":[{"award-number":["RYC2021-031781-I"]}]},{"name":"Ram\u00f3n y Cajal","award":["PRJ202304988"],"award-info":[{"award-number":["PRJ202304988"]}]},{"name":"Ram\u00f3n y Cajal","award":["RYC2021-031781-I"],"award-info":[{"award-number":["RYC2021-031781-I"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Animals"],"abstract":"<jats:p>Sex chromosomal abnormalities are a well-established cause of reproductive failure in domestic horses. Because of its difficult diagnosis, the Pura Raza Espa\u00f1ol breeding program established a routine screening for chromosomal abnormalities in all the horses prior to enrolling in the studbook. This genomic procedure combines an initial assessment based on the results from Short Tandem Repeat (STR) parentage testing followed by a Single-Nucleotide Polymorphism (SNP) based copy number aberration (CNA) confirmative analysis in positive cases. Using this methodology, we identified five new individuals carrying a 65,XXY chromosomal number aberration (CNA) among 27,330 foals enrolled over the past two reproductive seasons. The animals were initially flagged as CNA candidates due to abnormal results in STR testing. Subsequent analysis genotyping using an STR sex-linked dedicated panel and a medium-density SNP array in ECAX and ECAY confirmed the diagnosis as 65,XXY carriers. Four cases (upon sample availability) underwent further analysis using in situ fluorescent hybridization with ECAX and ECAY probes, showing identical results. Phenotypic analysis revealed abnormal gonad development in one of the cases, showing that the remaining four had a normal reproductive morphology. To our knowledge, this represents the largest number of horses exhibiting the equine form of Klinefelter syndrome (65,XXY) reported to date. Our study highlights the importance of genomic screening in the accurate detection of chromosomal abnormalities in horses.<\/jats:p>","DOI":"10.3390\/ani14172560","type":"journal-article","created":{"date-parts":[[2024,9,3]],"date-time":"2024-09-03T04:06:41Z","timestamp":1725336401000},"page":"2560","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["The Use of Genomic Screening for the Detection of Chromosomal Abnormalities in the Domestic Horse: Five New Cases of 65,XXY Syndrome in the Pura Raza Espa\u00f1ol Breed"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1742-550X","authenticated-orcid":false,"given":"Mercedes","family":"Valera","sequence":"first","affiliation":[{"name":"Departamento de Agronom\u00eda, Escuela T\u00e9cnica Superior de Ingenier\u00eda Agron\u00f3mica, Ctra. Utrera km 1, Universidad de Sevilla, 41013 Sevilla, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayel\u00e9n","family":"Karlau","sequence":"additional","affiliation":[{"name":"CONICET-Facultad de Ciencias Veterinarias, Universidad Nacional de La Plata, Calle 60 y 118 s\/n, La Plata 1900, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriel","family":"Anaya","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica, Universidad de C\u00f3rdoba, 14071 C\u00f3rdoba, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7537-6641","authenticated-orcid":false,"given":"Monika","family":"Bugno-Poniewierska","sequence":"additional","affiliation":[{"name":"Department of Animal Reproduction, Anatomy and Genomics, Uniwersytet Rolniczy im, Hugona Ko\u0142\u0142\u0105taja w Krakowie, 31-120 Krak\u00f3w, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9566-6600","authenticated-orcid":false,"given":"Antonio","family":"Molina","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica, Universidad de C\u00f3rdoba, 14071 C\u00f3rdoba, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Encina","sequence":"additional","affiliation":[{"name":"Departamento de Agronom\u00eda, Escuela T\u00e9cnica Superior de Ingenier\u00eda Agron\u00f3mica, Ctra. Utrera km 1, Universidad de Sevilla, 41013 Sevilla, Spain"},{"name":"Real Asociaci\u00f3n Nacional de Criadores de Caballos de Pura Raza Espa\u00f1ola (ANCCE), 41012 Sevilla, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pedro J.","family":"Azor","sequence":"additional","affiliation":[{"name":"Real Asociaci\u00f3n Nacional de Criadores de Caballos de Pura Raza Espa\u00f1ola (ANCCE), 41012 Sevilla, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3286-2441","authenticated-orcid":false,"given":"Sebasti\u00e1n","family":"Demyda-Peyr\u00e1s","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica, Universidad de C\u00f3rdoba, 14071 C\u00f3rdoba, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,9,3]]},"reference":[{"key":"ref_1","first-page":"1293","article-title":"Aneuploidy in an infertile mare","volume":"153","author":"Payne","year":"1968","journal-title":"J. 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