{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T10:26:21Z","timestamp":1762079181488},"reference-count":47,"publisher":"Akademiai Kiado Zrt.","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2009,9,1]]},"abstract":"<jats:p>Fluorescent<jats:italic>in situ<\/jats:italic>hybridisation (FISH) using a panel of molecular probes for all chromosome pairs obtained by chromosome microdissection of the domestic horse (<jats:italic>Equus caballus<\/jats:italic>) was used to diagnose karyotype abnormalities in 35 horses (32 mares, 2 stallions and 1 intersex), which were selected for the study due to infertility (23 horses), reduced fertility (10 horses) and developmental anomalies (2 horses). The use of the FISH technique with probes for each horse chromosome pair enabled the diagnosis of many different chromosome aberrations in this population. Among the horses analysed, 21 animals had normal karyotype \u2014 64,XX (19 mares) and 64,XY (2 stallions). Fourteen animals, constituting 40% of the population studied, showed the following chromosome abnormalities: 63,X (1 mare); 63,X\/64,XX (6 mares); 63,X\/64,XX\/65,XXX (3 mares); 63,X\/65,XXX (1 mare); 64,XX\/65,XX+Xp (1 mare); 63,X\/64,XX\/65,XX+Xq (1 mare), and 63,X\/64,XX\/65,XX+delY (1 intersex). When only the mares studied because of complete infertility were taken into consideration, this proportion exceeded 56%. Due to the increased frequency of the above-mentioned aberrations in the mosaic form of two or more lines, it was necessary to analyse a large number (100\u2013300) of metaphase spreads. The use of specific molecular probes obtained by chromosome microdissection made these diagnoses much easier.<\/jats:p>","DOI":"10.1556\/avet.57.2009.3.3","type":"journal-article","created":{"date-parts":[[2009,7,28]],"date-time":"2009-07-28T03:06:15Z","timestamp":1248750375000},"page":"369-381","source":"Crossref","is-referenced-by-count":15,"title":["Identification of chromosome abnormalities in the horse using a panel of chromosome-specific painting probes generated by microdissection"],"prefix":"10.1556","volume":"57","author":[{"given":"Monika","family":"Bugno","sequence":"first","affiliation":[{"name":"1 National Research Institute of Animal Production Department of Immuno- and Cytogenetics Krakowska 1 32-083 Balice\/Krak\u00f3w Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ewa","family":"S\u0142ota","sequence":"additional","affiliation":[{"name":"1 National Research Institute of Animal Production Department of Immuno- and Cytogenetics Krakowska 1 32-083 Balice\/Krak\u00f3w Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aldona","family":"Pie\u0144kowska-schelling","sequence":"additional","affiliation":[{"name":"2 Swiss Federal Institute of Technology Zurich Department of Animal Science Zurich Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claude","family":"Schelling","sequence":"additional","affiliation":[{"name":"3 Vetsuisse Faculty University of Zurich Department of Veterinary Medicine Zurich Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","reference":[{"key":"1","first-page":"336","article-title":"Deletion of the Sry region on the Y chromosome detected in case of equine gonadal hypoplasia (XY female) with abnormal hormonal profiles","volume":"31","author":"Abe S.","year":"1999","journal-title":"Equine Vet. J."},{"key":"2","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1139\/g90-101","article-title":"Two autosomal trisomies in the horse: 64,XX,-26,+(26q26q) and 65,XX,+30","volume":"33","author":"Bowling A. T.","year":"1990","journal-title":"Genome"},{"key":"3","first-page":"149","article-title":"An update of chromosomal abnormalities in mares","volume":"35","author":"Bowling A. T.","year":"1987","journal-title":"J. Reprod. Fertil., Suppl."},{"key":"4","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 M.","year":"1997","journal-title":"Vet. J."},{"key":"5","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 M.","year":"2007","journal-title":"Acta Vet. Hung."},{"key":"6","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 M.","year":"2003","journal-title":"Theriogenology"},{"key":"7","first-page":"205","article-title":"Utilization of the probe generated by chromosome microdissection, for detection of equine X chromosome aneuploidy","volume":"6","author":"Bugno M.","year":"2006","journal-title":"Ann. Anim. Sci."},{"key":"8","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 M.","year":"2007","journal-title":"Schweiz. Arch. Tierheilk."},{"key":"9","first-page":"11","article-title":"An effective method to diagnose X chromosome aneuploidy \u2014 the most frequent aberration in the horse","volume":"32","author":"Bugno M.","year":"2005","journal-title":"Rocz. Nauk. Zoot."},{"key":"10","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) \u2014 A case report","volume":"55","author":"Bugno M.","year":"2007","journal-title":"Acta Vet. Hung."},{"key":"11","first-page":"9","article-title":"A case of 64,XX\/64,XY leukocytic chimerism in a fertile mare of the Wielkopolska breed","volume":"26","author":"Bugno M.","year":"1999","journal-title":"Ann. Anim. Sci."},{"key":"12","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 M.","year":"2003","journal-title":"Equine Vet. J."},{"key":"13","first-page":"7","article-title":"Two cases of subfertile mares with 64,XX\/63,X mosaic karyotype","volume":"1","author":"Bugno M.","year":"2001","journal-title":"Ann. Anim. Sci."},{"key":"14","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 M.","year":"2008","journal-title":"Cytogenet. Genome Res."},{"key":"15","unstructured":"Buoen, L. C., Kent, M. G., Madi, J. and Weber, A. F. (1983): Variety of cytogenetic anomalies encountered during a two year period in a veterinary cytogenetics laboratory. 3rd North Am. Symp. Cytogenet. Cell Biol. Domest. Anim., Abstracts, p. 246."},{"key":"16","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 L. C.","year":"1997","journal-title":"Equine Vet. J."},{"key":"17","first-page":"377","article-title":"Chromosome abnormalities as a cause of infertility in mares","volume":"23","author":"Chandley A. C.","year":"1975","journal-title":"J. Reprod. Fert. Suppl."},{"key":"18","first-page":"123","article-title":"Two equine true hermaphrodites with 64,XX\/64,XY and 63,X0\/64,XY chimerism","volume":"71","author":"Dunn H. O.","year":"1981","journal-title":"Cornell Vet."},{"key":"19","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1136\/vr.116.20.542","article-title":"Sex chromosome mosaicism and infertility in mares","volume":"116","author":"Halnan C. R. E.","year":"1985","journal-title":"Vet. Rec."},{"key":"20","first-page":"627","article-title":"Detection by G- and C-band karyotyping of gonosome anomalies in horses of different breeds","volume":"32","author":"Halnan C. R. E.","year":"1982","journal-title":"J. Reprod. Fertil., Suppl."},{"key":"21","unstructured":"Herzog, A., Hohn, H. and Hecht, W. C. (1988): A 63,X0\/64,XYY t(Y;Y) mosaic in a foal. Proc. of the 8th Eur. Colloq. Cytogenet. Domest. Anim., Bristol, pp. 60\u201365."},{"key":"22","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1023\/A:1018408811881","article-title":"International System for Cytogenetic Nomenclature of the Domestic Horse. Bowling, A. T., Breen, M., Chowdhary, B. P., Hirota, K., Lear, T. L., Millon, L. V., Ponce de Leon, F. A., Raudsepp, T. and Stranzinger, G. (Committee)","volume":"5","year":"1997","journal-title":"Chromosome Res."},{"key":"23","first-page":"115","article-title":"Cytogenetic examination of horses from heterosexual twins","volume":"17","author":"Jaszczak K.","year":"1999","journal-title":"Anim. Sci. Pap. Rep."},{"key":"24","unstructured":"Kent, M. G. (1989): Fertility among XY sex reversed mares. 6th North Am. Colloq. Domest. Anim. Cytogenet., Purdue, Abstracts, p. 16."},{"key":"25","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 M. G.","year":"1986","journal-title":"Cytogenet. Cell Genet."},{"key":"26","first-page":"219","article-title":"Autosomal trisomy in a Standardbred colt","volume":"22","author":"Klunder L. R.","year":"1989","journal-title":"Equine Vet. J."},{"key":"27","doi-asserted-by":"crossref","first-page":"207","DOI":"10.2746\/042516402776181240","article-title":"Reproductive success of a mare 64,XX\/65,XX,+31","volume":"34","author":"Kubie\u0144 E.","year":"2002","journal-title":"Equine Vet. J."},{"key":"28","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1159\/000118739","article-title":"Equine clinical cytogenetics: the past and future","volume":"120","author":"Lear T. L.","year":"2008","journal-title":"Cytogenet. Genome Res."},{"key":"29","doi-asserted-by":"crossref","first-page":"207","DOI":"10.2746\/042516402776767295","article-title":"Use of Zoo-FISH to characterize a reciprocal translocation in a Thoroughbred mare: t(1;16)(q16;q21","volume":"34","author":"Lear T. L.","year":"2002","journal-title":"Equine Vet. J."},{"key":"30","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 T. L.","year":"1999","journal-title":"Equine Vet. J."},{"key":"31","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 T. L.","year":"2008","journal-title":"Cytogenet. Genome Res."},{"key":"32","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 S. E.","year":"1996","journal-title":"Cytogenet. Cell Genet."},{"key":"33","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":"M\u00e4kel\u00e4 O.","year":"1994","journal-title":"Equine Vet. J."},{"key":"34","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":"M\u00e4kinen A.","year":"1999","journal-title":"Equine Vet. J."},{"key":"35","unstructured":"McFeely, R. A., Klunder, L. R. and Byars, D. (1989): Equine infertility associated with autosomal mixoploidy. Proc. 6th North Am. Colloq. 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Med."},{"key":"40","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 M. M.","year":"1991","journal-title":"Equine Vet. J."},{"key":"41","first-page":"323","article-title":"Anomalie chromosomique chez un cheval","volume":"38","author":"Queinnec G.","year":"1975","journal-title":"Rev. Med. Vet."},{"key":"42","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1530\/jrf.0.0580157","article-title":"H-Y antigen in a fertile XY female horse","volume":"58","author":"Sharp A. J.","year":"1980","journal-title":"J. Reprod. Fertil."},{"key":"43","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1016\/0014-4827(72)90558-7","article-title":"A simple technique for demonstrating centromeric heterochromatin","volume":"75","author":"Sumner A. T.","year":"1972","journal-title":"Exp. Cell. Res."},{"key":"44","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1093\/jhered\/89.6.473","article-title":"Studies of synaptonemal complex in farm animals: A review","volume":"89","author":"\u015awito\u0144ski M.","year":"1998","journal-title":"J. Hered."},{"key":"45","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1002\/gcc.2870040311","article-title":"Cytogenetic analysis by chromosome painting using DOP-PCR amplified flowsorted chromosomes","volume":"4","author":"Telenius H.","year":"1992","journal-title":"Gen. Chrom. Cancer"},{"key":"46","volume-title":"Tissue Culture Methods and Applications","author":"Wang H. C.","year":"1974"},{"key":"47","first-page":"205","article-title":"A low-level X chromosome mosaicism in mares, detected by chromosome painting","volume":"42","author":"Wieczorek M.","year":"2001","journal-title":"J. Appl. 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