{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T21:06:03Z","timestamp":1782248763770,"version":"3.54.5"},"reference-count":35,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,2,3]],"date-time":"2023-02-03T00:00:00Z","timestamp":1675382400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"UCO-FEDER 20","award":["1380999-R"],"award-info":[{"award-number":["1380999-R"]}]},{"name":"UCO-FEDER 20","award":["AGL2017-84217-P"],"award-info":[{"award-number":["AGL2017-84217-P"]}]},{"name":"UCO-FEDER 20","award":["PICTA-2021-0063"],"award-info":[{"award-number":["PICTA-2021-0063"]}]},{"DOI":"10.13039\/501100003329","name":"Antonio Molina, PI","doi-asserted-by":"publisher","award":["1380999-R"],"award-info":[{"award-number":["1380999-R"]}],"id":[{"id":"10.13039\/501100003329","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003329","name":"Antonio Molina, PI","doi-asserted-by":"publisher","award":["AGL2017-84217-P"],"award-info":[{"award-number":["AGL2017-84217-P"]}],"id":[{"id":"10.13039\/501100003329","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003329","name":"Antonio Molina, PI","doi-asserted-by":"publisher","award":["PICTA-2021-0063"],"award-info":[{"award-number":["PICTA-2021-0063"]}],"id":[{"id":"10.13039\/501100003329","id-type":"DOI","asserted-by":"publisher"}]},{"name":"FONCyT, ANPCyT, Argentina","award":["1380999-R"],"award-info":[{"award-number":["1380999-R"]}]},{"name":"FONCyT, ANPCyT, Argentina","award":["AGL2017-84217-P"],"award-info":[{"award-number":["AGL2017-84217-P"]}]},{"name":"FONCyT, ANPCyT, Argentina","award":["PICTA-2021-0063"],"award-info":[{"award-number":["PICTA-2021-0063"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Animals"],"abstract":"<jats:p>Chromosomal abnormalities are largely associated with fertility impairments in the domestic horse. To date, over 600 cases of individuals carrying abnormal chromosome complements have been reported, making the domestic horse the species with the highest prevalence. However, studies analyzing the prevalence of chromosomal diseases in whole populations are scarce. We, therefore, employed a two-step molecular tool to screen and diagnose chromosomal abnormalities in a large population of 25,237 Pura Raza Espa\u00f1ol horses. Individuals were first screened using short tandem repeats parentage testing results and phenotypic evaluations. Those animals showing results suggesting chromosomal abnormalities were re-tested using a single nucleotide polymorphism (SNP)-based diagnostic methodology to accurately determine the chromosomal complements. Thirteen individuals showed a positive screening, all of which were diagnosed as chromosomally abnormal, including five 64,XY mares with sex development disorders (DSD) and four cases of blood chimerism (two male\/female and two female\/female cases). In addition, we detected one Turner and one Klinefelter syndrome and two individuals carrying complex karyotypes. The overall prevalence in the entire population was ~0.05%, with the prevalence of 64,XY DSD and blood chimerism ~0.02% and ~0.016%, respectively. However, the overall results should be taken with caution since the individuals carrying Turner syndrome (in full (63,X) or mosaic (mos 63,X\/64,XX) forms) cannot be detected due to limitations in the methodology employed. Finally, the lack of agreement between populational studies performed using karyotyping or molecular methods is discussed. To our knowledge, this is the largest populational study performed evaluating the prevalence of the most common chromosomal abnormalities in the domestic horse.<\/jats:p>","DOI":"10.3390\/ani13030539","type":"journal-article","created":{"date-parts":[[2023,2,6]],"date-time":"2023-02-06T04:25:28Z","timestamp":1675657528000},"page":"539","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Prevalence of Sex-Related Chromosomal Abnormalities in a Large Cohort of Spanish Purebred Horses"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3286-2441","authenticated-orcid":false,"given":"Sebasti\u00e1n","family":"Demyda-Peyr\u00e1s","sequence":"first","affiliation":[{"name":"Departamento de Producci\u00f3n Animal, Facultad de Ciencias Veterinarias, Universidad Nacional de La Plata, La Plata 1900, Argentina"},{"name":"Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas (CONICET LA PLATA), La Plata 1900, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3753-6725","authenticated-orcid":false,"given":"Nora","family":"Laseca","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica, Universidad de C\u00f3rdoba, 14071 C\u00f3rdoba, Spain"}],"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"}]},{"given":"Barbara","family":"Kij-Mitka","sequence":"additional","affiliation":[{"name":"Department of Animal Reproduction, Anatomy and Genomics, University of Agriculture in Krakow, Mickiewicza 24\/28, 30-059 Krakow, 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":"Ayel\u00e9n","family":"Karlau","sequence":"additional","affiliation":[{"name":"Departamento de Producci\u00f3n Animal, Facultad de Ciencias Veterinarias, Universidad Nacional de La Plata, La Plata 1900, Argentina"},{"name":"Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas (CONICET LA PLATA), La Plata 1900, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1742-550X","authenticated-orcid":false,"given":"Mercedes","family":"Valera","sequence":"additional","affiliation":[{"name":"Departamento Agronom\u00eda, Escuela T\u00e9cnica Superior de Ingenier\u00eda Agrom\u00f3mica, Universidad de Sevilla, Ctra Utrera Km 1, 41013 Sevilla, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,2,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1111\/j.2042-3306.1972.tb03898.x","article-title":"An intersex (male pseudohermaphrodite) horse with 64 XX-65 XXY mosaicism","volume":"4","author":"Bouters","year":"1972","journal-title":"Equine Vet. 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