{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:31:13Z","timestamp":1787027473082,"version":"build-2736575974"},"reference-count":207,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2021,3,16]],"date-time":"2021-03-16T00:00:00Z","timestamp":1615852800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009615","name":"University of Agriculture in Krakow","doi-asserted-by":"publisher","award":["SUB\/020013-D015"],"award-info":[{"award-number":["SUB\/020013-D015"]}],"id":[{"id":"10.13039\/100009615","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005632","name":"Narodowe Centrum Bada\u0144 i Rozwoju","doi-asserted-by":"publisher","award":["NCBiR:BIOSTRATEG2\/297267\/14\/NCBR\/2016"],"award-info":[{"award-number":["NCBiR:BIOSTRATEG2\/297267\/14\/NCBR\/2016"]}],"id":[{"id":"10.13039\/501100005632","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Texas A&amp;M Molecular Cytogenetics service","award":["Morris Animal Foundation grant D19EQ-051"],"award-info":[{"award-number":["Morris Animal Foundation grant D19EQ-051"]}]},{"DOI":"10.13039\/100000199","name":"USDA","doi-asserted-by":"publisher","award":["AFRI grant 2018-06521"],"award-info":[{"award-number":["AFRI grant 2018-06521"]}],"id":[{"id":"10.13039\/100000199","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Animals"],"abstract":"<jats:p>Clinical cytogenetic studies in horses have been ongoing for over half a century and clearly demonstrate that chromosomal disorders are among the most common non-infectious causes of decreased fertility, infertility, and congenital defects. Large-scale cytogenetic surveys show that almost 30% of horses with reproductive or developmental problems have chromosome aberrations, whereas abnormal karyotypes are found in only 2\u20135% of the general population. Among the many chromosome abnormalities reported in the horse, most are unique or rare. However, all surveys agree that there are two recurrent conditions: X-monosomy and SRY-negative XY male-to-female sex reversal, making up approximately 35% and 11% of all chromosome abnormalities, respectively. The two are signature conditions for the horse and rare or absent in other domestic species. The progress in equine genomics and the development of molecular tools, have qualitatively improved clinical cytogenetics today, allowing for refined characterization of aberrations and understanding the underlying molecular mechanisms. While cutting-edge genomics tools promise further improvements in chromosome analysis, they will not entirely replace traditional cytogenetics, which still is the most straightforward, cost-effective, and fastest approach for the initial evaluation of potential breeding animals and horses with reproductive or developmental disorders.<\/jats:p>","DOI":"10.3390\/ani11030831","type":"journal-article","created":{"date-parts":[[2021,3,16]],"date-time":"2021-03-16T12:01:02Z","timestamp":1615896062000},"page":"831","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["Horse Clinical Cytogenetics: Recurrent Themes and Novel Findings"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7537-6641","authenticated-orcid":false,"given":"Monika","family":"Bugno-Poniewierska","sequence":"first","affiliation":[{"name":"Department of Animal Reproduction, Anatomy and Genomics, University of Agriculture in Krakow, 31-120 Krakow, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2276-475X","authenticated-orcid":false,"given":"Terje","family":"Raudsepp","sequence":"additional","affiliation":[{"name":"Department of Veterinary Integrative Biosciences, Texas A&amp;M University, College Station, TX 77843-4458, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,3,16]]},"reference":[{"key":"ref_1","unstructured":"Bowling, A.T. (1996). Horse Genetics, CAB International."},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Bailey, E., and Brooks, S.A. (2013). Horse Genetics, CAB International. [2nd ed.].","DOI":"10.1079\/9781780643298.0000"},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Bowling, A.T., and Ruvinsky, A. (2000). Cytogenetics and physical gene maps. The Genetics of the Horse, CABI.","DOI":"10.1079\/9780851994291.0000"},{"key":"ref_4","unstructured":"Vaala, W.E., and Varner, D.D. (2011). Cytogenetic Evaluation of the Stallion. Equine Reproduction, Wiley Blackwell."},{"key":"ref_5","unstructured":"Vaala, W.E., and Varner, D.D. (2011). Cytogenetic evaluation of mares and foals. Equine Reproduction, Blackwell Publishing Ltd."},{"key":"ref_6","doi-asserted-by":"crossref","unstructured":"Chowdhary, B.P. (2013). Molecular Genetic Testing and Karyotyping in the Horse. Equine Genomics, Wiley-Blackwell.","DOI":"10.1002\/9781118522158"},{"key":"ref_7","doi-asserted-by":"crossref","unstructured":"Chowdhary, B.P. (2013). Genomics of reproduction and fertility. Equine Genomics, Wiley-Blackwell.","DOI":"10.1002\/9781118522158"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/B978-0-12-039234-6.50010-0","article-title":"Chromosomes of the horse","volume":"34","author":"Power","year":"1990","journal-title":"Adv. Vet. Sci. Comp. Med."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1159\/000118739","article-title":"Equine clinical cytogenetics: The past and future","volume":"120","author":"Lear","year":"2008","journal-title":"Cytogenet. Genome Res."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1159\/000334048","article-title":"Disorders of sexual development in the domestic horse, Equus caballus","volume":"6","author":"Lear","year":"2012","journal-title":"Sex. Dev."},{"key":"ref_11","first-page":"5","article-title":"Disorders of sex development in domestic animals. Preface","volume":"6","author":"Villagomez","year":"2012","journal-title":"Sex. Dev."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1159\/000245911","article-title":"Classical and molecular cytogenetics of disorders of sex development in domestic animals","volume":"126","author":"Villagomez","year":"2009","journal-title":"Cytogenet. Genome Res."},{"key":"ref_13","first-page":"207","article-title":"Chromosome Abnormalities in Domestic Animals as Causes of Disorders of Sex Development or Impaired Fertility","volume":"9","author":"Szczerbal","year":"2016","journal-title":"Insights Anim. Reprod."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1146\/annurev-animal-021815-111239","article-title":"Chromosome Aberrations and Fertility Disorders in Domestic Animals","volume":"4","author":"Raudsepp","year":"2016","journal-title":"Annu. Rev. Anim. Biosci."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1111\/age.12857","article-title":"Ten years of the horse reference genome: Insights into equine biology, domestication and population dynamics in the post-genome era","volume":"50","author":"Raudsepp","year":"2019","journal-title":"Anim. Genet."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"A125","DOI":"10.1007\/BF02982873","article-title":"Die Spermatogenese beim Pferde","volume":"79","author":"Kirillow","year":"1912","journal-title":"Arch. Fuer Mikrosk. Anat."},{"key":"ref_17","unstructured":"Masui, K. (1919). A spermatogenesis of domestic mammals. I. The spermatogenesis of the horse (Equus caballus). J. Coll. Agric. Tokyo Imp. Univ., 3."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1002\/jez.1400390204","article-title":"Studies in mammalian spermatogenesis. V. The chromosomes of the horse","volume":"39","author":"Painter","year":"1924","journal-title":"J. Exp. Zool."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"295","DOI":"10.2307\/1535918","article-title":"Spermatogenesis of the horse with special reference to the accessory chromosome and the chromatoid body","volume":"27","author":"Wodsedalek","year":"1914","journal-title":"Biol. Bull."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1508\/cytologia.13.26","article-title":"The chromosomes of the horse (Equus caballus)","volume":"13","author":"Makino","year":"1942","journal-title":"Cytologia"},{"key":"ref_21","first-page":"189","article-title":"The origin of altered cell lines from mouse, monkey and man, as indicated by chromosome and transplantation studies","volume":"3","author":"Rothfels","year":"1959","journal-title":"Proc. Can. Cancer Res. Conf."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1016\/0014-4827(60)90138-5","article-title":"Chromosome preparations of leucocytes cultured from human peripheral blood","volume":"20","author":"Moorhead","year":"1960","journal-title":"Exp. Cell Res."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"176","DOI":"10.2183\/pjab1945.39.176","article-title":"A revised study of the chromosomes of the horse, the ass and the mule","volume":"39","author":"Makino","year":"1963","journal-title":"Proc. Jpn. Acad."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/S0140-6736(71)90287-X","article-title":"A rapid banding technique for human chromosomes","volume":"2","author":"Seabright","year":"1971","journal-title":"Lancet"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/0014-4827(78)90177-5","article-title":"Modification of DAPI banding on human chromosomes by prestaining with a DNA-binding oligopeptide antibiotic, distamycin A","volume":"111","author":"Schweizer","year":"1978","journal-title":"Exp. Cell Res."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1159\/000130130","article-title":"Localization of heterochromatin in human chromosomes","volume":"10","author":"Arrighi","year":"1971","journal-title":"Cytogenetics"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1159\/000511236","article-title":"Novel complex unbalanced dicentric X-autosome rearrangement in a Thoroughbred mare with a mild effect on the phenotype","volume":"160","author":"Mendoza","year":"2020","journal-title":"Cytogenet. Genome Res."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1111\/j.1365-2052.2010.02101.x","article-title":"Molecular heterogeneity of XY sex reversal in horses","volume":"41","author":"Raudsepp","year":"2010","journal-title":"Anim. Genet."},{"key":"ref_29","first-page":"2638","article-title":"A new technic of analysis of the human karyotype","volume":"272","author":"Dutrillaux","year":"1971","journal-title":"C R Acad. Hebd. Seances Acad. Sci. D"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1007\/BF00329389","article-title":"Visualization of nucleolar organizer regions im mammalian chromosomes using silver staining","volume":"53","author":"Goodpasture","year":"1975","journal-title":"Chromosoma"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1080\/00087114.2003.10589326","article-title":"An improved characterization of horse (Equus caballus, 2n = 64) chromosomes by using replicating G and R banding patterns","volume":"56","author":"Iannuzzi","year":"2003","journal-title":"Caryologia"},{"key":"ref_32","first-page":"127","article-title":"Putative fragile sites in the horse karyotype","volume":"117","year":"1992","journal-title":"Hereditas"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1016\/j.theriogenology.2011.08.034","article-title":"Nucleolar organizer regions (NORs) distribution and behavior in spermatozoa and meiotic cells of the horse (Equus caballus)","volume":"77","author":"Wnuk","year":"2012","journal-title":"Theriogenology"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1111\/j.1601-5223.1980.tb01688.x","article-title":"Proceedings of the First International Conference for the Standardisation of Banded Karyotypes of Domestic Animals. University of Reading Reading, England, 2nd\u20136th August 1976","volume":"92","author":"Ford","year":"1980","journal-title":"Hereditas"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1111\/j.1601-5223.1990.tb00069.x","article-title":"Standard karyotype of the domestic horse (Equus caballus). Committee for standardized karyotype of Equus caballus. The Second International Conference for Standardization of Domestic Animal Karyotypes, INRA, Jouy-en Josas, France, 22nd\u201326th May 1989","volume":"112","author":"Richer","year":"1990","journal-title":"Hereditas"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1023\/A:1018408811881","article-title":"International system for cytogenetic nomenclature of the domestic horse. Report of the Third International Committee for the Standardization of the domestic horse karyotype, Davis, CA, USA 1996","volume":"5","author":"Bowling","year":"1997","journal-title":"Chromosome Res."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1159\/000332212","article-title":"Cytogenetic and molecular characterization of Y isochromosome in a 63XO\/64Xi(Yq) mosaic karyotype of an intersex horse","volume":"6","author":"Das","year":"2012","journal-title":"Sex. Dev."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"2945","DOI":"10.1038\/s41467-018-05290-6","article-title":"Horse Y chromosome assembly displays unique evolutionary features and putative stallion fertility genes","volume":"9","author":"Davis","year":"2018","journal-title":"Nat. Commun."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1126\/science.1178158","article-title":"Genome sequence, comparative analysis, and population genetics of the domestic horse","volume":"326","author":"Wade","year":"2009","journal-title":"Science"},{"key":"ref_40","first-page":"1281","article-title":"Distribution of ribosomal RNA genes on chromosomes of domestic horse (Equus caballus) revealed by fluorescence in situ hybridization","volume":"33","author":"Deryusheva","year":"1997","journal-title":"Genetika"},{"key":"ref_41","first-page":"236","article-title":"Some cases of NOR instability in horse chromosomes","volume":"74","author":"Loginova","year":"1996","journal-title":"Cytogenet. Cell Genet."},{"key":"ref_42","first-page":"1293","article-title":"Aneuploidy in an infertile mare","volume":"153","author":"Payne","year":"1968","journal-title":"J. Am. Vet. Assoc."},{"key":"ref_43","unstructured":"Chandley, A.C., Fletcher, J., Rossdale, P.D., Peace, C.K., Ricketts, S.W., McEnery, R.J., Thorne, J.P., Short, R.V., and Allen, W.R. (1975). Chromosome abnormalities as a cause of infertility in mares. J. Reprod. Fertil. Suppl., 377\u2013383."},{"key":"ref_44","first-page":"149","article-title":"An update of chromosomal abnormalities in mares","volume":"35","author":"Bowling","year":"1987","journal-title":"J. Reprod. Fertil. Suppl."},{"key":"ref_45","first-page":"71","article-title":"Cytogenetic investigations of mares with fertility disturbances","volume":"48","author":"Parada","year":"1996","journal-title":"Pr. Mat. Zoot."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1024\/0036-7281.149.5.227","article-title":"Karyotype evaluation among young horse populations in Poland","volume":"149","author":"Bugno","year":"2007","journal-title":"Schweiz. Arch. Fur Tierheilkd."},{"key":"ref_47","first-page":"205","article-title":"A low-level X chromosome mosaicism in mares, detected by chromosome painting","volume":"42","author":"Wieczorek","year":"2001","journal-title":"J. Appl. Genet."},{"key":"ref_48","first-page":"01","article-title":"Study on the origin of 64,XX\/63,X karyotype in four sterile mares","volume":"45","author":"Pawlak","year":"2000","journal-title":"Vet. Med. Czech."},{"key":"ref_49","unstructured":"Bugno-Poniewierska, M., Wojtaszek, M., Pawlina-Tyszko, K., Kowalska, K., Witarski, W., and Raudsepp, T. (2018, January 12\u201315). Evaluation of the prevalence of sex chromosome aberrations in a population of young horses\u2014Preliminary results. Proceedings of the Doroty Russell Havemeyer 12th International Horse Genome Workshop, Pavia, Italy."},{"key":"ref_50","first-page":"49","article-title":"Diagnostics of horse karyotype aberrations\u2014The initial results of screening","volume":"5","author":"Wojtaszek","year":"2017","journal-title":"Wiadomo\u015bci Zootech. R. Lv."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1159\/000330627","article-title":"The pseudoautosomal region and sex chromosome aneuploidies in domestic species","volume":"6","author":"Raudsepp","year":"2012","journal-title":"Sex. Dev."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"102781","DOI":"10.1016\/j.jevs.2019.07.002","article-title":"Azoospermia and Y chromosome-autosome translocation in a Friesian stallion","volume":"82","author":"Ruiz","year":"2019","journal-title":"J. Equine Vet. Sci."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1016\/j.jevs.2010.09.001","article-title":"XX\/XY Blood Lymphocyte Chimerism in Heterosexual Dizygotic Twins from an American Bashkir Curly Horse. Case Report","volume":"30","author":"Juras","year":"2010","journal-title":"J. Equine Vet. Sci."},{"key":"ref_54","first-page":"1","article-title":"Two Novel Cases of Autosomal Translocations in the Horse: Warmblood Family Segregating t(4;30) and a Cloned Arabian with a de novo t(12;25)","volume":"16","author":"Ghosh","year":"2020","journal-title":"Cytogenet. Genome Res."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1111\/rda.12636","article-title":"A Non-Reciprocal Autosomal Translocation 64,XX, t(4;10)(q21;p15) in an Arabian Mare with Repeated Early Embryonic Loss","volume":"51","author":"Ghosh","year":"2016","journal-title":"Reprod. Domest. Anim."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1016\/j.jevs.2014.01.007","article-title":"Repeated early embryonic loss in a thoroughbred mare with a chromosomal translocation [64, XX, t (2; 13)]","volume":"34","author":"Lear","year":"2014","journal-title":"J. Equine Vet. Sci."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1016\/j.jevs.2008.06.003","article-title":"Autosomic 27 trisomy in a standardbred colt","volume":"28","author":"Brito","year":"2008","journal-title":"J. Equine Vet. Sci."},{"key":"ref_58","doi-asserted-by":"crossref","unstructured":"Ghosh, S., Davis, B.W., Rosengren, M., Jevit, M.J., Castaneda, C., Arnold, C., Jaxheimer, J., Love, C.C., Varner, D.D., and Lindgren, G. (2020). Characterization of A Homozygous Deletion of Steroid Hormone Biosynthesis Genes in Horse Chromosome 29 as A Risk Factor for Disorders of Sex Development and Reproduction. Genes, 11.","DOI":"10.3390\/genes11030251"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1111\/j.2042-3306.1988.tb01475.x","article-title":"A 64XX\/65XXX mosaic mare (Equus caballus) and associated infertility","volume":"20","author":"Gill","year":"1988","journal-title":"Equine Vet. J."},{"key":"ref_60","unstructured":"H\u00f6hn, H., Klug, E., and Rieck, G.W. (1980, January 10\u201313). A 63,XO\/65,XYY mosaic in a case of questionable equine male pseudohermaphroditism. Proceedings of the 4 th European Colloquium on Cytogenetics of Domestic Animals, Uppsala, Sweden."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1136\/vr.148.1.24","article-title":"63,XO\/65,XYY mosaicism in a case of equine male pseudohermaphroditism","volume":"148","author":"Paget","year":"2001","journal-title":"Vet. Rec."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1080\/00480169.1988.35483","article-title":"Infertile mares with chromosome abnormalities","volume":"36","year":"1988","journal-title":"N. Z. Vet. J."},{"key":"ref_63","first-page":"627","article-title":"Detection by G-and C-band karyotyping of gonosome anomalies in horses of different breeds","volume":"32","author":"Halnan","year":"1982","journal-title":"J. Reprod. Fert. Suppl."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1159\/000118750","article-title":"A case of an intersex horse with 63,X\/64,XX\/65,XX,del(Y)(q?) karyotype","volume":"120","author":"Bugno","year":"2008","journal-title":"Cytogenet. Genome Res."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1111\/j.2042-3306.1990.tb04252.x","article-title":"Six separate sex chromosome anomalies in an Arabian mare","volume":"22","author":"Klunder","year":"1990","journal-title":"Equine Vet. J."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/j.jevs.2019.05.008","article-title":"Fertility and 63,X Mosaicism in a Haflinger Sibship","volume":"78","author":"Neuhauser","year":"2019","journal-title":"J. Equine Vet. Sci"},{"key":"ref_67","first-page":"24","article-title":"Sterility Associated with 64,XX\/64,XY,63,X0 mosaic karyotype in a Belgian mare","volume":"16","author":"Mushtag","year":"1994","journal-title":"Equine Pract."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1111\/j.2042-3292.2006.tb00415.x","article-title":"Infertile mares with XO and XY sex chromosome deviations","volume":"18","author":"Hasegawa","year":"2006","journal-title":"Equine Vet. Educ."},{"key":"ref_69","first-page":"13","article-title":"Anomalie chromosomowe u koni i ich skutki w reprodukcji","volume":"12","author":"Jaszczak","year":"1992","journal-title":"Przegl\u0105d. Hod."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1111\/j.2042-3306.1985.tb02461.x","article-title":"Equine cytogenetics: Role in equine veterinary practice","volume":"17","author":"Halnan","year":"1985","journal-title":"Equine Vet. J."},{"key":"ref_71","first-page":"7","article-title":"Two cases of subfertile mares with 64,XX\/63,X mosa-ic karyotype","volume":"1","author":"Bugno","year":"2001","journal-title":"Ann. Anim. Sci."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/S1090-0233(97)80057-3","article-title":"Detection of equine X chromosome abnormalities in equids using a horse X whole chromosome paint probe (WCPP)","volume":"153","author":"Breen","year":"1997","journal-title":"Vet. J."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1111\/j.2042-3306.1999.tb03829.x","article-title":"Infertility in two mares with XY and XXX sex chromosomes","volume":"31","author":"Hasegawa","year":"1999","journal-title":"Equine Vet. J."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"209","DOI":"10.2746\/042516403776114207","article-title":"Nonmosaic X trisomy, detected by chromosome painting, in an infertile mare","volume":"35","author":"Bugno","year":"2003","journal-title":"Equine Vet. J."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1111\/j.2042-3306.2010.0094.x","article-title":"X trisomy in a sterile mare","volume":"42","author":"Molteni","year":"2010","journal-title":"Equine Vet. J."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1111\/j.2042-3306.1993.tb02976.x","article-title":"Clinical, cytogenetic and endocrine evaluation of a horse with a 65,XXY karyotype","volume":"25","author":"Kubien","year":"1993","journal-title":"Equine Vet. J."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"358","DOI":"10.2746\/042516400777032138","article-title":"Two sterile stallions with XXY-syndrome","volume":"32","author":"Katila","year":"2000","journal-title":"Equine Vet. J."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1080\/00087114.2004.10589423","article-title":"Clinical, cytogenetic and molecular studies on sterile stallion and mare affected by XXY and sex reversal syndromes, respectively","volume":"57","author":"Iannuzzi","year":"2004","journal-title":"Caryologia"},{"key":"ref_79","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. J."},{"key":"ref_80","first-page":"492","article-title":"Comparative cytogenetic examinations of parents and sibilding of colt with a false masculine hermaphroditism","volume":"36","author":"Kleczkowska","year":"1980","journal-title":"Med. Wet."},{"key":"ref_81","first-page":"205","article-title":"A probe generated by chromosome microdissection, useful for detection of equine X chromosome aneuploidy","volume":"6","author":"Bugno","year":"2006","journal-title":"Ann. Anim. Sci."},{"key":"ref_82","first-page":"297","article-title":"An equine intersex with unilateral gonadal agenesis","volume":"33","author":"Basrur","year":"1969","journal-title":"Can. J. Comp. Med."},{"key":"ref_83","first-page":"265","article-title":"Bilaterally cryptorchid stallion with female karyotype","volume":"64","author":"Dunn","year":"1974","journal-title":"Cornell Vet."},{"key":"ref_84","unstructured":"Klunder, L.R., and McFeeley, R.A. Chromosome analysis of 130 equine clinical cases. Proceedings of the 6th North American Colloquium on Cytogenetics of Domestic Animals, West Lafayette, IN, USA."},{"key":"ref_85","first-page":"1","article-title":"Infertility and chromosome abnormality","volume":"6","author":"Chandley","year":"1984","journal-title":"Oxf. Rev. Rep. Biol."},{"key":"ref_86","unstructured":"Nicolas, F.W. (1987). Veterinary Genetics, Oxford University Press."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1093\/oxfordjournals.jhered.a108363","article-title":"Cytogenetics of the superhorse","volume":"64","author":"Marx","year":"1973","journal-title":"J. Hered."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"13314","DOI":"10.1038\/s41598-020-69967-z","article-title":"Whole genome analysis reveals aneuploidies in early pregnancy loss in the horse","volume":"10","author":"Shilton","year":"2020","journal-title":"Sci. Rep."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1093\/humupd\/dmz015","article-title":"Potential genetic causes of miscarriage in euploid pregnancies: A systematic review","volume":"25","author":"Colley","year":"2019","journal-title":"Hum. Reprod. Update"},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"a023119","DOI":"10.1101\/cshperspect.a023119","article-title":"Genetic considerations in recurrent pregnancy loss","volume":"5","author":"Hyde","year":"2015","journal-title":"Cold Spring Harb. Perspect. Med."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1159\/000132448","article-title":"Equine half sibs with an unbalanced X;15 translocation or trisomy 28","volume":"45","author":"Power","year":"1987","journal-title":"Cytogenet. Cell Genet."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1139\/g90-101","article-title":"Two autosomal trisomies in the horse: 64,XX,-26,+t(26q26q) and 65,XX,+30","volume":"33","author":"Bowling","year":"1990","journal-title":"Genome"},{"key":"ref_93","unstructured":"Zhang, T.Q., Bellamy, J., Buwn, L.C., Weber, A.F., and Ruth, G.R. (1992, January 18\u201321). Autosomal trisomy in a foal with contracted tendon syndrome. Proceedings of the 10th European Colloqium on Cytogenetics of Domestic Animals, Utrecht, The Netherlands."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1111\/j.2042-3306.1997.tb01638.x","article-title":"Arthrogryposis in the foal and its possible relation to autosomal trisomy","volume":"29","author":"Buoen","year":"1997","journal-title":"Equine Vet. J."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1007\/s00335-013-9450-6","article-title":"Detection of two equine trisomies using SNP-CGH","volume":"24","author":"Holl","year":"2013","journal-title":"Mamm. Genome"},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1111\/j.2042-3306.1999.tb03796.x","article-title":"Autosomal trisomy in a Thoroughbred colt: 65,XY,+31","volume":"31","author":"Lear","year":"1999","journal-title":"Equine Vet. J."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"99","DOI":"10.2746\/042516402776181240","article-title":"Reproductive success of a mare with a mosaic karyotype: 64,XX\/65,XX,+30","volume":"34","author":"Kubien","year":"2002","journal-title":"Equine Vet. J."},{"key":"ref_98","doi-asserted-by":"crossref","unstructured":"Cuckle, H., and Morris, J. (2020). Maternal age in the epidemiology of common autosomal trisomies. Prenat. Diagn., online ahead of print.","DOI":"10.1002\/pd.5840"},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1016\/j.tig.2015.05.010","article-title":"Human Structural Variation: Mechanisms of Chromosome Rearrangements","volume":"31","author":"Weckselblatt","year":"2015","journal-title":"Trends Genet."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.fertnstert.2016.10.013","article-title":"Translocations, inversions and other chromosome rearrangements","volume":"107","author":"Morin","year":"2017","journal-title":"Fertil. Steril."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1159\/000118743","article-title":"Chromosome variation in the embryos of domestic animals","volume":"120","author":"King","year":"2008","journal-title":"Cytogenet. Genome Res."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1111\/j.2042-3306.1991.tb02742.x","article-title":"The first description of a balanced reciprocal translocation [t(1q;3q)] and its clinical effects in a mare","volume":"23","author":"Power","year":"1991","journal-title":"Equine Vet. J."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1159\/000134176","article-title":"Tandem 1;30 translocation: A new structural abnormality in the horse (Equus caballus)","volume":"72","author":"Long","year":"1996","journal-title":"Cytogenet. Cell Genet."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"207","DOI":"10.2746\/042516402776767295","article-title":"Use of zoo-FISH to characterise a reciprocal translocation in a thoroughbred mare: T(1;1 6)(q16;q21.3)","volume":"34","author":"Lear","year":"2002","journal-title":"Equine Vet. J."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1159\/000118749","article-title":"Three autosomal chromosome translocations associated with repeated early embryonic loss (REEL) in the domestic horse (Equus caballus)","volume":"120","author":"Lear","year":"2008","journal-title":"Cytogenet. Genome Res."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1038\/190372a0","article-title":"Gene action in the X-chromosome of the mouse (Mus musculus L.)","volume":"190","author":"Lyon","year":"1961","journal-title":"Nature"},{"key":"ref_107","first-page":"135","article-title":"Sex chromatin and gene action in the mammalian X-chromosome","volume":"14","author":"Lyon","year":"1962","journal-title":"Am. J. Hum. Genet."},{"key":"ref_108","doi-asserted-by":"crossref","unstructured":"Cantone, I., and Fisher, A.G. (2017). Human X chromosome inactivation and reactivation: Implications for cell reprogramming and disease. Philos. Trans. R. Soc. Lond. B Biol. Sci., 372.","DOI":"10.1098\/rstb.2016.0358"},{"key":"ref_109","doi-asserted-by":"crossref","unstructured":"Carrel, L., and Brown, C.J. (2017). When the Lyon(ized chromosome) roars: Ongoing expression from an inactive X chromosome. Philos Trans. R. Soc. Lond. B Biol. Sci., 372.","DOI":"10.1098\/rstb.2016.0355"},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"728","DOI":"10.1016\/j.tig.2020.06.008","article-title":"Meiotic Executioner Genes Protect the Y from Extinction","volume":"36","author":"Waters","year":"2020","journal-title":"Trends Genet."},{"key":"ref_111","doi-asserted-by":"crossref","unstructured":"Donaldson, B., Villagomez, D.A.F., Revay, T., Rezaei, S., and King, W.A. (2019). Non-Random Distribution of Reciprocal Translocation Breakpoints in the Pig Genome. Genes, 10.","DOI":"10.3390\/genes10100769"},{"key":"ref_112","doi-asserted-by":"crossref","unstructured":"Ghosh, S., Qu, Z., Das, P.J., Fang, E., Juras, R., Cothran, E.G., McDonell, S., Kenney, D.G., Lear, T.L., and Adelson, D.L. (2014). Copy number variation in the horse genome. PLoS Genet., 10.","DOI":"10.1371\/journal.pgen.1004712"},{"key":"ref_113","unstructured":"McFeely, R.A., Klunder, L.R., and Byars, D. Equine infertility associated with autosomal mixoploidy. Proceedings of the 6th North American Colloquium on Domestic Animal Cytogenetics, West Lafayette, IN, USA."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1159\/000112065","article-title":"A chromosome inversion near the KIT gene and the Tobiano spotting pattern in horses","volume":"119","author":"Brooks","year":"2007","journal-title":"Cytogenet. Genome Res."},{"key":"ref_115","unstructured":"McGowan-Jordan, J., Hastings, R.J., and Moore, S. (2020). An International System for Human Cytogenomic Nomenclature, S. Karger AG."},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1111\/j.2042-3306.1994.tb04381.x","article-title":"A 64,X,i(Xq) karyotype in a standardbred filly","volume":"26","author":"Gustavsson","year":"1994","journal-title":"Equine Vet. J."},{"key":"ref_117","first-page":"171","article-title":"A sex chromosome mosaic in male pseudohermaphroditism in a horse","volume":"17","author":"Herzog","year":"1989","journal-title":"Tierarztl. Prax."},{"key":"ref_118","unstructured":"Bugno-Poniewierska, M., Z\u0105bek, T., Pawlina, K., Klukowska-R\u00f6tzler, J., Rojek, M., and S\u0142ota, E. (2010, January 6\u20139). Y isochromosome in mare with sex chromosome mosaicism 63,X\/64,XYqi. Proceedings of the 19th International Colloquium on Animal Cytogenetics and Gene Mapping, Balice\/Krak\u00f3w, Poland."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1159\/000245910","article-title":"Fragile sites in domestic animal chromosomes: Molecular insights and challenges","volume":"126","author":"Riggs","year":"2009","journal-title":"Cytogenet. Genome Res."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1146\/annurev.genet.41.042007.165900","article-title":"Chromosome fragile sites","volume":"41","author":"Durkin","year":"2007","journal-title":"Annu. Rev. Genet."},{"key":"ref_121","doi-asserted-by":"crossref","unstructured":"Santagostino, M., Piras, F.M., Cappelletti, E., del Giudice, S., Semino, O., Nergadze, S.G., and Giulotto, E. (2020). Insertion of Telomeric Repeats in the Human and Horse Genomes: An Evolutionary Perspective. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21082838"},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1111\/j.1399-0004.2006.00689.x","article-title":"Chimera and other fertilization errors","volume":"70","author":"Malan","year":"2006","journal-title":"Clin. Genet."},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1046\/j.1439-0388.2001.00274.x","article-title":"High frequency of lymphocyte chimerism XX\/XY and an analysis of hereditary occurrence of placental anastomoses in Booroola sheep","volume":"118","author":"Keszka","year":"2001","journal-title":"J. Anim. Breed. Genet. Z. Fur Tierz. Und. Zucht."},{"key":"ref_124","first-page":"55","article-title":"Genetic aspects of twinning in cattle","volume":"43","author":"Komisarek","year":"2002","journal-title":"J. Appl. Genet."},{"key":"ref_125","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. Equine Vet. Sci."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"1116","DOI":"10.1016\/j.theriogenology.2014.01.040","article-title":"The use of a novel combination of diagnostic molecular and cytogenetic approaches in horses with sexual karyotype abnormalities: A rare case with an abnormal cellular chimerism","volume":"81","author":"Anaya","year":"2014","journal-title":"Theriogenology"},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1159\/000351225","article-title":"The use of molecular and cytogenetic methods as a valuable tool in the detection of chromosomal abnormalities in horses: A case of sex chromosome chimerism in a Spanish purebred colt","volume":"141","author":"Membrillo","year":"2013","journal-title":"Cytogenet. Genome Res."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1111\/j.1365-2052.1993.tb00322.x","article-title":"Silent blood chimaerism in a mare confirmed by DNA marker analysis of hair bulbs","volume":"24","author":"Bowling","year":"1993","journal-title":"Anim. Genet."},{"key":"ref_129","first-page":"9","article-title":"A case of 64,XX\/64,XY leucocytic chimerism in a fertile mare of the Wielkopolska breed","volume":"26","author":"Bugno","year":"1999","journal-title":"Ann. Anim. Sci."},{"key":"ref_130","first-page":"531","article-title":"Fertility of sires born as dizygotic twins and sex ratio in their progeny groups","volume":"9","author":"Gustavsson","year":"1977","journal-title":"Ann. Genet. Sel Anim"},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"1672","DOI":"10.2460\/javma.1994.204.10.1672","article-title":"Diagnosis of freemartinism in cattle: The need for clinical and cytogenic evaluation","volume":"204","author":"Zhang","year":"1994","journal-title":"J. Am. Vet. Med. Assoc."},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"e488","DOI":"10.1542\/peds.2006-0738","article-title":"International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine, and E. the European Society for Paediatric. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex","volume":"118","author":"Lee","year":"2006","journal-title":"Pediatrics"},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1159\/000322811","article-title":"Equine disorders of sexual development in 17 mares including XX, SRY-negative, XY, SRY-negative and XY, SRY-positive genotypes","volume":"5","author":"Villagomez","year":"2011","journal-title":"Sex. Dev."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1016\/j.cveq.2020.03.013","article-title":"Genetics of Equine Reproductive Diseases","volume":"36","author":"Raudsepp","year":"2020","journal-title":"Vet. Clin. N. Am. Equine Pract."},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1111\/j.2042-3306.1986.tb03609.x","article-title":"XY sex reversal in a mare","volume":"18","author":"Power","year":"1986","journal-title":"Equine Vet. J."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1159\/000132243","article-title":"XY sex-reversal syndrome in the domestic horse","volume":"42","author":"Kent","year":"1986","journal-title":"Cytogenet. Cell Genet."},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1007\/BF00282169","article-title":"XY sex reversal syndrome in the mare: Clinical and behavioral studies, H-Y phenotype","volume":"79","author":"Kent","year":"1988","journal-title":"Hum. Genet."},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1111\/j.1601-5223.1995.00109.x","article-title":"Molecular analysis of an XY mare with gonadal dysgenesis","volume":"122","author":"Pailhoux","year":"1995","journal-title":"Hereditas"},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1111\/j.2042-3306.1997.tb03148.x","article-title":"Sry-negative XX true hermaphroditism in a Pasa Fino horse","volume":"29","author":"Hurtgen","year":"1997","journal-title":"Equine Vet. J."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1111\/j.2042-3306.1999.tb03813.x","article-title":"Deletion of the Sry region on the Y chromosome detected in a case of equine gonadal hypoplasia (XY female) with abnormal hormonal profiles","volume":"31","author":"Abe","year":"1999","journal-title":"Equine Vet. J."},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.anireprosci.2014.09.020","article-title":"Sex reversal syndrome in the horse: Four new cases of feminization in individuals carrying a 64,XY SRY negative chromosomal complement","volume":"151","author":"Anaya","year":"2014","journal-title":"Anim. Reprod. Sci."},{"key":"ref_142","first-page":"341","article-title":"Cytogenetical and molecular analyses in a horse with SRY-negative sex reversal","volume":"156","author":"Becker","year":"2014","journal-title":"Schweiz. Arch. Tierheilkd."},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"938","DOI":"10.1177\/1040638720952380","article-title":"Molecular screening of XY SRY-negative sex reversal cases in horses revealed anomalies in amelogenin testing","volume":"32","author":"Martinez","year":"2020","journal-title":"J. Vet. Diagn. Investig."},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"1597","DOI":"10.1016\/S0093-691X(02)01197-4","article-title":"A sporadic case of the sex-reversed mare (64,XY.; SRY-negative): Molecular and cytogenetic studies of the Y chromosome","volume":"59","author":"Bugno","year":"2003","journal-title":"Theriogenology"},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"103177","DOI":"10.1016\/j.jevs.2020.103177","article-title":"Teratoma Associated With Testicular Tissue in a Female-Like Horse With 64,XY (SRY-Positive) Disorder of Sex Development","volume":"92","author":"Delfiol","year":"2020","journal-title":"J. Equine Vet. Sci."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"751","DOI":"10.2460\/javma.238.6.751","article-title":"Physical, behavioral, endocrinologic, and cytogenetic evaluation of two Standardbred racehorses competing as mares with an intersex condition and high postrace serum testosterone concentrations","volume":"238","author":"Knobbe","year":"2011","journal-title":"J. Am. Vet. Med. Assoc."},{"key":"ref_147","first-page":"501","article-title":"Androgen insensitivity syndrome in a thoroughbred mare (64, XY--testicular feminization)","volume":"45","author":"Howden","year":"2004","journal-title":"Can. Vet. J."},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"1689","DOI":"10.2460\/javma.1992.200.11.1689","article-title":"Testicular feminization syndrome in a mare","volume":"200","author":"Crabbe","year":"1992","journal-title":"J. Am. Vet. Med. Assoc."},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1111\/j.1439-0388.2005.00510.x","article-title":"Sex reversal syndrome (64,XY.; SRY-positive) in a mare demonstrating masculine behaviour","volume":"122","author":"Switonski","year":"2005","journal-title":"J. Anim. Breed. Genet."},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1159\/000334049","article-title":"GTG mutation in the start codon of the androgen receptor gene in a family of horses with 64,XY disorder of sex development","volume":"6","author":"Villagomez","year":"2012","journal-title":"Sex. Dev."},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1159\/000444991","article-title":"Missense Mutation in the Ligand-Binding Domain of the Horse Androgen Receptor Gene in a Thoroughbred Family with Inherited 64,XY (SRY+) Disorder of Sex Development","volume":"10","author":"Bolzon","year":"2016","journal-title":"Sex. Dev."},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1159\/000455114","article-title":"Androgen Insensitivity Syndrome in a Family of Warmblood Horses Caused by a 25-bp Deletion of the DNA-Binding Domain of the Androgen Receptor Gene","volume":"11","author":"Welsford","year":"2017","journal-title":"Sex. Dev."},{"key":"ref_153","doi-asserted-by":"crossref","unstructured":"Terribile, M., Stizzo, M., Manfredi, C., Quattrone, C., Bottone, F., Giordano, D.R., Bellastella, G., Arcaniolo, D., and de Sio, M. (2019). 46,XX Testicular Disorder of Sex Development (DSD): A Case Report and Systematic Review. Medicina (Kaunas), 55.","DOI":"10.3390\/medicina55070371"},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1016\/j.tvjl.2005.11.008","article-title":"SRY negative 64,XX intersex phenotype in an American saddlebred horse","volume":"173","author":"Bannasch","year":"2007","journal-title":"Vet. J."},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"78","DOI":"10.2746\/042516400777612071","article-title":"SRY-negative, XX intersex horses: The need for pedigree studies to examine the mode of inheritance of the condition","volume":"32","author":"Buoen","year":"2000","journal-title":"Equine Vet. J."},{"key":"ref_156","first-page":"381","article-title":"SRY-negative, 64,XX sex reversal in a Konik Polski horse: A case report","volume":"28","author":"Jaszczak","year":"2010","journal-title":"Anim. Sci. Pap. Rep."},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1016\/S0093-691X(01)00465-4","article-title":"SRY-negative XX sex reversal in a pony: A case report","volume":"55","author":"Vaughan","year":"2001","journal-title":"Theriogenology"},{"key":"ref_158","doi-asserted-by":"crossref","unstructured":"Peretti, V., Satue, K., Ciotola, F., Cristarella, S., de Majo, M., Biondi, V., D\u2019Anza, E., Albarella, S., and Quartuccio, M. (2020). An Unusual Case of Testicular Disorder in Sex Development of Arabian Mare (64,XX SRY-Negative). Animals, 10.","DOI":"10.3390\/ani10111963"},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1159\/000331480","article-title":"Molecular and cytogenetic studies in a case of XX SRY-negative sex reversal in an Arabian horse","volume":"6","author":"Ciotola","year":"2012","journal-title":"Sex. Dev."},{"key":"ref_160","doi-asserted-by":"crossref","first-page":"e33","DOI":"10.1111\/rda.12094","article-title":"64, XX, SRY-negative, testicular DSD syndrome in a Lusitano horse","volume":"48","author":"Torres","year":"2013","journal-title":"Reprod. Domest. Anim."},{"key":"ref_161","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.mne.2018.10.006","article-title":"Fluorescence in situ hybridization (FISH): History, limitations and what to expect from micro-scale FISH?","volume":"1","author":"Huber","year":"2018","journal-title":"Micro Nano Eng."},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1007\/978-1-59745-581-7_3","article-title":"FISH for mapping single copy genes","volume":"422","author":"Raudsepp","year":"2008","journal-title":"Methods Mol. Biol."},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1159\/000245905","article-title":"Fluorescence in situ hybridization applied to domestic animal cytogenetics","volume":"126","author":"Rubes","year":"2009","journal-title":"Cytogenet. Genome Res."},{"key":"ref_164","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1159\/000151313","article-title":"A 4,103 marker integrated physical and comparative map of the horse genome","volume":"122","author":"Raudsepp","year":"2008","journal-title":"Cytogenet. Genome Res."},{"key":"ref_165","doi-asserted-by":"crossref","first-page":"772","DOI":"10.1016\/j.ygeno.2006.03.002","article-title":"A human-horse comparative map based on equine BAC end sequences","volume":"87","author":"Leeb","year":"2006","journal-title":"Genomics"},{"key":"ref_166","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1023\/B:CHRO.0000009298.02689.8a","article-title":"Refined genome-wide comparative map of the domestic horse, donkey and human based on cross-species chromosome painting: Insight into the occasional fertility of mules","volume":"12","author":"Yang","year":"2004","journal-title":"Chromosome Res."},{"key":"ref_167","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1556\/avet.57.2009.3.3","article-title":"Identification of chromosome abnormalities in the horse using a panel of chromosome-specific painting probes generated by microdissection","volume":"57","author":"Bugno","year":"2009","journal-title":"Acta Vet. Hung."},{"key":"ref_168","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1023\/A:1009234814635","article-title":"Construction of chromosome-specific paints for meta- and submetacentric autosomes and the sex chromosomes in the horse and their use to detect homologous chromosomal segments in the donkey","volume":"7","author":"Raudsepp","year":"1999","journal-title":"Chromosome Res."},{"key":"ref_169","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1556\/avet.55.2007.2.6","article-title":"Detection of equine X chromosome mosaicism in a mare using an equine X whole chromosome painting probe (WCPP)\u2014A case report","volume":"55","author":"Bugno","year":"2007","journal-title":"Acta Vet. Hung."},{"key":"ref_170","doi-asserted-by":"crossref","first-page":"173","DOI":"10.22358\/jafs\/66878\/2006","article-title":"Probe generated by Y chromosome microdissection is useful for analysing the sex chromosomes of the domestic horse","volume":"15","author":"Bugno","year":"2006","journal-title":"J. Anim. Feed Sci."},{"key":"ref_171","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1556\/AVet.55.2007.3.5","article-title":"Application of arm-specific painting probes of horse X chromosome for karyotype analysis in an infertile Hutsul mare with 64,XX\/65,XX+Xp karyotype: Case report","volume":"55","author":"Bugno","year":"2007","journal-title":"Acta Vet. Hung."},{"key":"ref_172","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1101\/gr.111278.110","article-title":"Genome-wide characterization of centromeric satellites from multiple mammalian genomes","volume":"21","author":"Alkan","year":"2011","journal-title":"Genome Res."},{"key":"ref_173","doi-asserted-by":"crossref","first-page":"723","DOI":"10.22358\/jafs\/66445\/2009","article-title":"The fluorescence in situ study of highly repeated DNA sequences in domestic horse (Equus caballus) and domestic donkey (Equus asinus)\u2014Advantages and limits of usefulness in phylogenetic analyses","volume":"18","author":"Wnuk","year":"2009","journal-title":"J. Anim. Feed Sci."},{"key":"ref_174","doi-asserted-by":"crossref","first-page":"85","DOI":"10.2478\/v10042-008-0012-9","article-title":"Application of primed in situ DNA synthesis (PRINS) with telomere human commercial kit in molecular cytogenetics of Equus caballus and Sus scrofa scrofa","volume":"46","author":"Wnuk","year":"2008","journal-title":"Folia Histochem. Cytobiol."},{"key":"ref_175","first-page":"400","article-title":"A case of sex chromosome mosaicism 64,XX\/65,XXY\/66,XXYY in mare","volume":"22","author":"Zabek","year":"2014","journal-title":"Chromosome Res."},{"key":"ref_176","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1111\/rda.13605","article-title":"Premature centromere division (PCD) identified in a hucul mare with reproductive difficulties","volume":"55","author":"Witarski","year":"2020","journal-title":"Reprod. Domest. Anim."},{"key":"ref_177","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1002\/mrd.1080270304","article-title":"Fluorescence in situ hybridization to Y chromosomes in decondensed human sperm nuclei","volume":"27","author":"Wyrobek","year":"1990","journal-title":"Mol. Reprod. Dev."},{"key":"ref_178","first-page":"663","article-title":"Modification of equine sperm chromatin decondensation method to use fluorescence in situ hybridization (FISH)","volume":"47","author":"Jablonska","year":"2009","journal-title":"Folia Histochem. Cytobiol."},{"key":"ref_179","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1111\/j.1439-0531.2009.01478.x","article-title":"Detection of sex chromosome aneuploidy in equine spermatozoa using fluorescence in situ hybridization","volume":"45","author":"Bugno","year":"2010","journal-title":"Reprod. Domest. Anim."},{"key":"ref_180","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1111\/j.1439-0531.2010.01742.x","article-title":"Determination of the correlation between stallion\u2019s age and number of sex chromosome aberrations in spermatozoa","volume":"46","author":"Kozub","year":"2011","journal-title":"Reprod. Domest. Anim."},{"key":"ref_181","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.jevs.2013.10.019","article-title":"Age-related effects on sex chromosome aberrations in equine spermatozoa","volume":"34","author":"Pawlina","year":"2014","journal-title":"J. Equine Vet. Sci."},{"key":"ref_182","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1111\/rda.12686","article-title":"Fertility Assessment in Sorraia Stallions by Sperm-Fish and Fkbp6 Genotyping","volume":"51","author":"Oom","year":"2016","journal-title":"Reprod. Domest. Anim."},{"key":"ref_183","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1126\/science.1359641","article-title":"Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors","volume":"258","author":"Kallioniemi","year":"1992","journal-title":"Science"},{"key":"ref_184","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1515\/aoas-2015-0068","article-title":"Identification of Unbalanced Aberrations in the Genome of Equine Sarcoid Cells Using Cgh Technique","volume":"16","author":"Staron","year":"2016","journal-title":"Ann. Anim. Sci."},{"key":"ref_185","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1146\/annurev.genom.6.080604.162140","article-title":"Comparative genomic hybridization","volume":"6","author":"Pinkel","year":"2005","journal-title":"Annu. Rev. Genom. Hum. Genet."},{"key":"ref_186","doi-asserted-by":"crossref","first-page":"S11","DOI":"10.1038\/ng1569","article-title":"Array comparative genomic hybridization and its applications in cancer","volume":"37","author":"Pinkel","year":"2005","journal-title":"Nat. Genet."},{"key":"ref_187","unstructured":"Bugno-Poniewierska, M., Z\u0105bek, T., Gurgul, A., and Pawlina, K. (2016, January 2\u20135). Characteristics of chromosome rearrangements of an intersex horse using molecular cytogenetic techniques. Proceedings of the 22nd International Colloquium on Animal Cytogenetics and Genomics, Tolouse, France."},{"key":"ref_188","doi-asserted-by":"crossref","unstructured":"Schaefer, R.J., Schubert, M., Bailey, E., Bannasch, D.L., Barrey, E., Bar-Gal, G.K., Brem, G., Brooks, S.A., Distl, O., and Fries, R. (2017). Developing a 670k genotyping array to tag ~2M SNPs across 24 horse breeds. BMC Genom., 18.","DOI":"10.1186\/s12864-017-3943-8"},{"key":"ref_189","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1159\/000118742","article-title":"Chromosomal abnormalities, meiotic behavior and fertility in domestic animals","volume":"120","author":"Villagomez","year":"2008","journal-title":"Cytogenet. Genome Res."},{"key":"ref_190","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1007\/s00412-014-0493-6","article-title":"Centromere sliding on a mammalian chromosome","volume":"124","author":"Purgato","year":"2015","journal-title":"Chromosoma"},{"key":"ref_191","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1007\/978-3-319-58592-5_14","article-title":"The Unique DNA Sequences Underlying Equine Centromeres","volume":"56","author":"Giulotto","year":"2017","journal-title":"Cent. Kinetochores"},{"key":"ref_192","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1159\/000357152","article-title":"Distribution of MLH1 foci in horse male synaptonemal complex","volume":"142","author":"Goodwin","year":"2014","journal-title":"Cytogenet. Genome Res."},{"key":"ref_193","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1159\/000365910","article-title":"Male horse meiosis: Metaphase I chromosome configuration and chiasmata distribution","volume":"143","author":"Goodwin","year":"2014","journal-title":"Cytogenet. Genome Res."},{"key":"ref_194","doi-asserted-by":"crossref","first-page":"143","DOI":"10.2746\/0425164054223787","article-title":"Genetic diagnosis of sex chromosome aberrations in horses based on parentage test by microsatellite DNA and analysis of X- and Y-linked markers","volume":"37","author":"Kakoi","year":"2005","journal-title":"Equine Vet. J."},{"key":"ref_195","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1111\/age.12543","article-title":"Sex chromosomal abnormalities associated with equine infertility: Validation of a simple molecular screening tool in the Purebred Spanish Horse","volume":"48","author":"Anaya","year":"2017","journal-title":"Anim. Genet."},{"key":"ref_196","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1292\/jvms.18-0253","article-title":"X monosomy in the endangered Kiso horse breed detected by a parentage test using sex chromosome linked genes and microsatellites","volume":"81","author":"Gamo","year":"2019","journal-title":"J. Vet. Med. Sci."},{"key":"ref_197","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1023\/A:1018456727811","article-title":"Physical mapping of genetic markers to chromosome 30 using a trisomic horse and evidence for maternal origin of the extra chromosome","volume":"5","author":"Bowling","year":"1997","journal-title":"Chromosome Res."},{"key":"ref_198","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1159\/000443157","article-title":"The Eutherian Pseudoautosomal Region","volume":"147","author":"Raudsepp","year":"2015","journal-title":"Cytogenet. Genome Res."},{"key":"ref_199","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1007\/s10577-008-1204-z","article-title":"The horse genome derby: Racing from map to whole genome sequence","volume":"16","author":"Chowdhary","year":"2008","journal-title":"Chromosome Res."},{"key":"ref_200","doi-asserted-by":"crossref","first-page":"1621","DOI":"10.1534\/genetics.117.300382","article-title":"Long-Term Fragility of Y Chromosomes Is Dominated by Short-Term Resolution of Sexual Antagonism","volume":"207","author":"Blackmon","year":"2017","journal-title":"Genetics"},{"key":"ref_201","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1007\/s10577-009-9052-z","article-title":"Monosomy for the X chromosome","volume":"17","author":"Bondy","year":"2009","journal-title":"Chromosome Res."},{"key":"ref_202","doi-asserted-by":"crossref","unstructured":"Lupski, J.R., and Stankiewicz, P. (2005). Genomic disorders: Molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet., 1.","DOI":"10.1371\/journal.pgen.0010049"},{"key":"ref_203","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1007\/s40618-016-0541-6","article-title":"Klinefelter syndrome (KS): Genetics, clinical phenotype and hypogonadism","volume":"40","author":"Bonomi","year":"2017","journal-title":"J. Endocrinol. Investig."},{"key":"ref_204","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/B978-0-444-63233-3.00024-5","article-title":"Sex chromosome aneuploidies","volume":"147","author":"Skuse","year":"2018","journal-title":"Handb. Clin. Neurol."},{"key":"ref_205","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1016\/j.cell.2009.07.042","article-title":"Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes","volume":"138","author":"Lange","year":"2009","journal-title":"Cell"},{"key":"ref_206","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1111\/j.1471-0528.2008.01703.x","article-title":"Swyer syndrome: Presentation and outcomes","volume":"115","author":"Michala","year":"2008","journal-title":"BJOG"},{"key":"ref_207","doi-asserted-by":"crossref","unstructured":"Mantere, T., Neveling, K., Pebrel-Richard, C., Benoist, M., van der Zande, G., Kater-Baats, E., Baatout, I., van Beek, R., Yammine, T., and Oorsprong, M. (2020). Next generation cytogenetics: Genome-imaging enables comprehensive structural variant detection for 100 constitutional chromosomal aberrations in 85 samples. bioRxiv.","DOI":"10.1101\/2020.07.15.205245"}],"container-title":["Animals"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2076-2615\/11\/3\/831\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T05:36:13Z","timestamp":1760160973000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2076-2615\/11\/3\/831"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,16]]},"references-count":207,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2021,3]]}},"alternative-id":["ani11030831"],"URL":"https:\/\/doi.org\/10.3390\/ani11030831","relation":{},"ISSN":["2076-2615"],"issn-type":[{"value":"2076-2615","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,3,16]]}}}