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Topic:Horse Breeds

Horse breeds represent the diverse genetic and phenotypic variations found within the species Equus ferus caballus. These breeds are categorized based on characteristics such as size, conformation, coat color, and temperament, which have been selectively bred over centuries to fulfill specific roles and functions. Common classifications of horse breeds include light horses, draft horses, and ponies, each serving different purposes ranging from riding and racing to work and companionship. This page aggregates peer-reviewed research studies and scholarly articles that explore the genetics, history, and functional attributes of various horse breeds, as well as their impact on equine management and breeding practices.
Population Variation Reveals Independent Selection toward Small Body Size in Chinese Debao Pony.
Genome biology and evolution    December 3, 2015   Volume 8, Issue 1 42-50 doi: 10.1093/gbe/evv245
Kader A, Li Y, Dong K, Irwin DM, Zhao Q, He X, Liu J, Pu Y, Gorkhali NA, Liu X, Jiang L, Li X, Guan W, Zhang Y, Wu DD, Ma Y.Body size, one of the most important quantitative traits under evolutionary scrutiny, varies considerably among species and among populations within species. Revealing the genetic basis underlying this variation is very important, particularly in humans where there is a close relationship with diseases and in domestic animals as the selective patterns are associated with improvements in production traits. The Debao pony is a horse breed with small body size that is unique to China; however, it is unknown whether the size-related candidate genes identified in Western breeds also account for the...
Prevalence and characteristics of osteochondrosis in 309 Spanish Purebred horses.
Veterinary journal (London, England : 1997)    December 3, 2015   Volume 207 112-117 doi: 10.1016/j.tvjl.2015.09.024
Boado A, López-Sanromán FJ.Articular osteochondrosis (OC) is commonly reported in horses but there are no reports of its prevalence in the Spanish Purebred (SP). The objective of this study was to assess the prevalence and characteristics of OC of the tarsocrural, dorsal metacarpo-metatarsophalangeal and femoropatellar joints in the SP in a retrospective study. The data were obtained from the radiographs of 309 SP horses and the prevalence and characteristics of lesions were calculated. Osteochondral lesions at predilected sites were diagnosed in 48.8% of the horses. It was more common to find the presence of fragments ...
First report of fatal systemic Halicephalobus gingivalis infection in two Lipizzaner horses from Romania: clinical, pathological, and molecular characterization.
Parasitology research    December 2, 2015   Volume 115, Issue 3 1097-1103 doi: 10.1007/s00436-015-4839-7
Taulescu MA, Ionicã AM, Diugan E, Pavaloiu A, Cora R, Amorim I, Catoi C, Roccabianca P.Halicephalobus gingivalis (H. gingivalis) causes a rare and fatal infection in horses and humans. Despite the zoonotic potential and severity of the disease, the epidemiology and pathogenesis of halicephalobiasis are still poorly understood. Several European cases of equine halicephalobiasis have been documented; however, in South-Eastern European countries, including Romania, equine neurohelminthiasis caused by H. gingivalis has not been previously described. Two Lipizzaner horses with a clinical history of progressive neurological signs were referred to the Pathology Department of the Cluj-N...
Comparison of Fecal Microbiota of Mongolian and Thoroughbred Horses by High-throughput Sequencing of the V4 Region of the 16S rRNA Gene.
Asian-Australasian journal of animal sciences    December 1, 2015   Volume 29, Issue 9 1345-1352 doi: 10.5713/ajas.15.0587
Zhao Y, Li B, Bai D, Huang J, Shiraigo W, Yang L, Zhao Q, Ren X, Wu J, Bao W, Dugarjaviin M.The hindgut of horses is an anaerobic fermentative chamber for a complex and dynamic microbial population, which plays a critical role in health and energy requirements. Research on the gut microbiota of Mongolian horses has not been reported until now as far as we know. Mongolian horse is a major local breed in China. We performed high-throughput sequencing of the 16S rRNA genes V4 hypervariable regions from gut fecal material to characterize the gut microbiota of Mongolian horses and compare them to the microbiota in Thoroughbred horses. Fourteen Mongolian and 19 Thoroughbred horses were use...
Genetic Diversity, Parentage Verification, and Genetic Bottlenecks Evaluation in Iranian Turkmen Horse Breed.
Genetika    November 27, 2015   Volume 51, Issue 9 1066-1074 doi: 10.7868/s0016675815090088
Rahimi-Mianji G, Nejati-Javaremi A, Farhadi A.The present study was undertaken to genetically evaluate Turkmen horses for genetic diversity and to evaluate whether they have experienced any recent genetic bottlenecks. A total of 565 individuals from Turkmen horses were characterized for within breed diversity using 12 microsatellite markers. The estimated mean allelic diversity was (9.42 ± 1.78) per locus, with a total of 131 alleles in genotyped samples. A high level of genetic variability within this breed was observed in terms of high values of effective number of alleles (4.70 ± 1.36), observed heterozygosity (0.757 ± 0.19), expect...
Comparative characteristics of DNA polymorphisms of κ-casein gene (CSN3) in the horse and donkey.
Genetics and molecular research : GMR    November 19, 2015   Volume 14, Issue 4 14567-14575 doi: 10.4238/2015.November.18.20
Selvaggi M, D'Alessandro AG, Dario C.The aims of this study were to assess the genetic variability in the exon 1 of the κ-casein gene in four Italian horse populations (Italian Saddle horse, Italian Trotter, Italian Heavy Draught horse, and Murgese horse) and in a sample of Martina Franca donkey by estimating genotype, allele and haplotype frequencies, as well as several population genetic indices. Genotyping of the selected polymorphisms was performed using the PCR-RFLP technique with two restriction enzymes: PstI and BseYI aimed to discover the presence of c.-66A>G and c.-36C>A polymorphism, respectively. Both these loci...
Modelling repeated competition records in genetic evaluations of Danish sport horses.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie    November 18, 2015   Volume 133, Issue 4 291-302 doi: 10.1111/jbg.12190
Jönsson L, Madsen P, Mark T.Genetic evaluations of sport performance typically consider competition records of ranking points in each competition, accumulated lifetime points or annual earnings. Repeated observations have the advantage of allowing for adjustment of effects associated with each competition such as rider experience, judge and competing horses, but also demands more computer capacity than single-trait records, which could prohibit multiple-trait evaluations. The aim of the study was to compare CPU times, estimated breeding values (EBVs), reliabilities and model prediction abilities when modelling repeated c...
Biomechanical and biochemical properties of the thoracic aorta in warmblood horses, Friesian horses, and Friesians with aortic rupture.
BMC veterinary research    November 18, 2015   Volume 11 285 doi: 10.1186/s12917-015-0597-0
Saey V, Famaey N, Smoljkic M, Claeys E, van Loon G, Ducatelle R, Ploeg M, Delesalle C, Gröne A, Duchateau L, Chiers K.Thoracic aortic rupture and aortopulmonary fistulation are rare conditions in horses. It mainly affects Friesian horses. Intrinsic differences in biomechanical properties of the aortic wall might predispose this breed. The biomechanical and biochemical properties of the thoracic aorta were characterized in warmblood horses, unaffected Friesian horses and Friesians with aortic rupture in an attempt to unravel the underlying pathogenesis of aortic rupture in Friesian horses. Samples of the thoracic aorta at the ligamentum arteriosum (LA), mid thoracic aorta (T1) and distal thoracic aorta (T2) we...
Retrospective evaluation of all recorded horse race starts in Switzerland during a four year period focusing on discipline-specific risk factors for clinical events.
Equine veterinary journal    November 18, 2015   Volume 48, Issue 6 697-703 doi: 10.1111/evj.12515
Schweizer C, Ramseyer A, Gerber V, Christen G, Burger D, Wohlfender FD.Racetrack injuries are of welfare concern and the prevention of injuries is an important goal in many racing jurisdictions. Over the years this has led to more detailed recording of clinical events on racecourses. However, risk factor analyses of clinical events at race meetings have not been previously reported for Switzerland. Objective: To identify discipline-specific factors that influence the occurrence of clinical events during race meetings with the ultimate aim of improving the monitoring and safety of racetracks in Switzerland and optimising racehorse welfare. Methods: Retrospective s...
Effect of Solid Medium During Cooled Storage on Stallion Sperm Parameters.
Cryo letters    November 18, 2015   Volume 36, Issue 5 313-317 
Santos FC, Corcini CD, Costa VG, Gheller SM, Nogueira CE, da Rosa Curcio B, Varel AS.Solid storage medium prevents cellular sedimentation, reduces metabolic demand via limiting movement, and avoids the modification of an extender composition in the sedimentary microenvironment. It has been proven to prolong spermatozoa viability in mammalians. Objective: This experiment aims to evaluate the effect of cool storage in solid phase extender on stallion sperms. Methods: Semen was collected from 10 Crioulo stallions (n=30) and submitted to treatments: control group (semen extender) and groups with gelatin addition in different concentrations (semen extender + 1%, 2% and 3%). Seminal...
Estimation of infection of internal parasites in horses from different type of farms.
Annals of parasitology    November 17, 2015   Volume 61, Issue 3 189-192 doi: 10.17420/ap6103.06
Sokół R, Raś-Noryńska M, Michalczyk M, Raś A, Rapacz-Leonard A, Koziatek S.Studies were carried out in year 2014 during the pasture period (from April to October) in Warmia and Mazury Region. Fecal samples were taken from cold- and warmblood horses from individual and agrotouristic farms with the different housing, feeding and pasture- care practices. Total of 512 horses were examined (320 mares, 170 geldings and 22 stallions). In the group of 185 horses from individual farms, 119 animals (64.3%) were infected with gastro-intestinal parasites. Among the 372 horses from agrotouristic farms 169 (51.7%) were infected with parasites. Most of the animals expelled the eggs...
Variant in the RFWD3 gene associated with PATN1, a modifier of leopard complex spotting.
Animal genetics    November 16, 2015   Volume 47, Issue 1 91-101 doi: 10.1111/age.12375
Holl HM, Brooks SA, Archer S, Brown K, Malvick J, Penedo MC, Bellone RR.Leopard complex spotting (LP), the result of an incompletely dominant mutation in TRPM1, produces a collection of unique depigmentation patterns in the horse. Although the LP mutation allows for expression of the various patterns, other loci are responsible for modification of the extent of white. Pedigree analysis of families segregating for high levels of patterning indicated a single dominant gene, named Pattern-1 (PATN1), as a major modifier of LP. Linkage analysis in two half-sibling families segregating for PATN1 identified a 15-Mb region on ECA3p that warranted further investigation. Wh...
Assessment of demographic bottleneck in Indian horse and endangered pony breeds.
Journal of genetics    November 6, 2015   Volume 94, Issue 4 e56-e62 doi: 10.1007/s12041-015-0570-5
Gupta AK, Chauhan M, Bhardwaj A, Vijh RK.No abstract available
Generation, Characterization, and Multilineage Potency of Mesenchymal-Like Progenitors Derived from Equine Induced Pluripotent Stem Cells.
Stem cells and development    November 5, 2015   Volume 25, Issue 1 80-89 doi: 10.1089/scd.2014.0409
Lepage SI, Nagy K, Sung HK, Kandel RA, Nagy A, Koch TG.Multipotent mesenchymal stromal cells (MSCs) are more and more frequently used to treat orthopedic injuries in horses. However, these cells are limited in their expandability and differentiation capacity. Recently, the first equine-induced pluripotent stem cell (iPSC) lines were reported by us [ 1 ]. In vitro differentiation of iPSCs into MSC-like cells is an attractive alternative to using MSCs derived from other sources, as a much larger quantity of patient-specific cells with broad differentiation potential could be generated. However, the differentiation capacity of iPSCs to MSCs and the p...
Should we use the single nucleotide polymorphism linked to in genomic evaluation of French trotter?
Journal of animal science    November 3, 2015   Volume 93, Issue 10 4651-4659 doi: 10.2527/jas.2015-9224
Brard S, Ricard A.An A/C mutation responsible for the ability to pace in horses was recently discovered in the gene. It has also been proven that allele C has a negative effect on trotters' performances. However, in French trotters (FT), the frequency of allele A is only 77% due to an unexpected positive effect of allele C in late-career FT performances. Here we set out to ascertain whether the genotype at SNP (linked to ) should be used to compute EBV for FT. We used the genotypes of 630 horses, with 41,711 SNP retained. The pedigree comprised 5,699 horses. Qualification status (trotters need to complete a 2,0...
Frequency of gray coat color in native Chinese horse breeds.
Genetics and molecular research : GMR    October 30, 2015   Volume 14, Issue 4 14144-14150 doi: 10.4238/2015.October.29.36
Gao KX, Chen NB, Liu WJ, Li R, Lan XY, Chen H, Lei CZ, Dang RH.Gray horses are born colored, and they then gradually lose their hair pigmentation. Tremendous progress has been made in identifying the genes responsible for graying with age in horses in recent years. Results show that gray coat color in horses is caused by a 4.6-kb duplication in intron 6 of the syntaxin 17 gene (STX17), which constitutes a cis-acting-regulatory mutation. However, little is known about the gray phenotype in native Chinese horses. This study was conducted to explore the frequency distribution of the gray mutation in native Chinese horse breeds. A total of 489 samples from 14...
Epigallocatechin-3-Gallate (EGCG) Reduces Rotenone Effect on Stallion Sperm-Zona Pellucida Heterologous Binding.
Reproduction in domestic animals = Zuchthygiene    October 20, 2015   Volume 50, Issue 6 1011-1016 doi: 10.1111/rda.12628
Plaza Dávila M, Bucci D, Galeati G, Peña FJ, Mari G, Giaretta E, Tamanini C, Spinaci M.Stallion spermatozoa are highly dependent on oxidative phosphorylation for ATP production to achieve normal sperm function and to fuel the motility. The aim of this study was to evaluate the response of equine sperm under capacitating conditions to the inhibition of mitochondrial complex I by rotenone and to test whether epigallocatechin-3-gallate (EGCG), a natural polyphenol component of green tea, could counteract this effect. After 2-h incubation of stallion spermatozoa in modified Tyrode's medium, rotenone (100 nm, 500 nm and 5 μm) and EGCG (10, 20 and 60 μm), alone or in combination, di...
VASA (DDX4) is a Putative Marker for Spermatogonia, Spermatocytes and Round Spermatids in Stallions.
Reproduction in domestic animals = Zuchthygiene    October 20, 2015   Volume 50, Issue 6 1032-1038 doi: 10.1111/rda.12632
Kim JY, Jung HJ, Yoon MJ.Expression of the protein DDX4/MVH, or VASA, has been reported in germ cells of several species. The main objectives of this study were to (i) investigate VASA expression patterns in testicular cells of stallions at two different reproductive stages (pre-pubertal and post-pubertal) and (ii) evaluate the use of VASA antibody as a molecular marker for single germ cells from stallions. Testicular tissues were obtained from stallions and categorized as pre-pubertal and post-pubertal based on the formation of lumen and status of spermatogenesis on the cross section of seminiferous tubules. The resu...
A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses.
BMC genomics    October 9, 2015   Volume 16 761 doi: 10.1186/s12864-015-1936-z
Ducro BJ, Schurink A, Bastiaansen JW, Boegheim IJ, van Steenbeek FG, Vos-Loohuis M, Nijman IJ, Monroe GR, Hellinga I, Dibbits BW, Back W, Leegwater PA.Hydrocephalus in Friesian horses is a developmental disorder that often results in stillbirth of affected foals and dystocia in dams. The occurrence is probably related to a founder effect and inbreeding in the population. The aim of our study was to find genomic associations, to investigate the mode of inheritance, to allow a DNA test for hydrocephalus in Friesian horses to be developed. In case of a monogenic inheritance we aimed to identify the causal mutation. Results: A genome-wide association study of hydrocephalus in 13 cases and 69 controls using 29,720 SNPs indicated the involvement o...
RNA sequencing as a powerful tool in searching for genes influencing health and performance traits of horses.
Journal of applied genetics    October 7, 2015   Volume 57, Issue 2 199-206 doi: 10.1007/s13353-015-0320-7
Stefaniuk M, Ropka-Molik K.RNA sequencing (RNA-seq) by next-generation technology is a powerful tool which creates new possibilities in whole-transcriptome analysis. In recent years, with the use of the RNA-seq method, several studies expanded transcriptional gene profiles to understand interactions between genotype and phenotype, supremely contributing to the field of equine biology. To date, in horses, massive parallel sequencing of cDNA has been successfully used to identify and quantify mRNA levels in several normal tissues, as well as to annotate genes. Moreover, the RNA-seq method has been applied to identify the ...
Postprandial glucose, insulin, and glucagon-like peptide-1 responses of different equine breeds adapted to meals containing micronized maize.
Journal of animal science    October 7, 2015   Volume 93, Issue 7 3377-3383 doi: 10.2527/jas.2014-8736
Bamford NJ, Baskerville CL, Harris PA, Bailey SR.The enteroinsular axis is a complex system that includes the release of incretin hormones from the gut to promote the absorption and utilization of glucose after a meal. The insulinogenic effect of incretin hormones such as glucagon-like peptide-1 (GLP-1) remains poorly characterized in the horse. The aim of this study was to compare postprandial glucose, insulin, and GLP-1 responses of different equine breeds adapted to twice-daily meals containing micronized maize. Four Standardbred horses, 4 mixed-breed ponies, and 4 Andalusian cross horses in moderate BCS (5.5 ± 0.2 out of 9) were fed mea...
Characterization of an Equine α-S2-Casein Variant Due to a 1.3 kb Deletion Spanning Two Coding Exons.
PloS one    October 7, 2015   Volume 10, Issue 10 e0139700 doi: 10.1371/journal.pone.0139700
Brinkmann J, Koudelka T, Keppler JK, Tholey A, Schwarz K, Thaller G, Tetens J.The production and consumption of mare's milk in Europe has gained importance, mainly based on positive health effects and a lower allergenic potential as compared to cows' milk. The allergenicity of milk is to a certain extent affected by different genetic variants. In classical dairy species, much research has been conducted into the genetic variability of milk proteins, but the knowledge in horses is scarce. Here, we characterize two major forms of equine αS2-casein arising from genomic 1.3 kb in-frame deletion involving two coding exons, one of which represents an equid specific duplicati...
Screening for the Most Suitable Reference Genes for Gene Expression Studies in Equine Milk Somatic Cells.
PloS one    October 5, 2015   Volume 10, Issue 10 e0139688 doi: 10.1371/journal.pone.0139688
Cieslak J, Mackowski M, Czyzak-Runowska G, Wojtowski J, Puppel K, Kuczynska B, Pawlak P.Apart from the well-known role of somatic cell count as a parameter reflecting the inflammatory status of the mammary gland, the composition of cells isolated from milk is considered as a valuable material for gene expression studies in mammals. Due to its unique composition, in recent years an increasing interest in mare's milk consumption has been observed. Thus, investigating the genetic background of horse's milk variability presents and interesting study model. Relying on 39 milk samples collected from mares representing three breeds (Polish Primitive Horse, Polish Cold-blooded Horse, Pol...
Cryopreservation of stallion spermatozoa using different cryoprotectants and combinations of cryoprotectants.
Animal reproduction science    October 3, 2015   Volume 163 75-81 doi: 10.1016/j.anireprosci.2015.09.020
Wu Z, Zheng X, Luo Y, Huo F, Dong H, Zhang G, Yu W, Tian F, He L, Chen J.The present study investigates the effects of five cryoprotectants (CPAs) and cryoprotectant combinations on the post-thaw total motility, progressive motility, viability, mitochondrial membrane potential and acrosome integrity in stallion spermatozoa. In Experiment 1, the objective was to compare the impact of different concentrations (2.5%, 3.5% and 5%) of a single CPA, including glycerol (Gly), ethylene glycol (EG), dimethyl sulphoxide (DMSO), methyl formamide (MF), and dimethylformamide (DMF) for stallion spermatozoa cryopreservation. In Experiment 2, two or more CPAs were used to assess w...
Inhibition of Mitochondrial Complex I Leads to Decreased Motility and Membrane Integrity Related to Increased Hydrogen Peroxide and Reduced ATP Production, while the Inhibition of Glycolysis Has Less Impact on Sperm Motility.
PloS one    September 25, 2015   Volume 10, Issue 9 e0138777 doi: 10.1371/journal.pone.0138777
Plaza Davila M, Martin Muñoz P, Tapia JA, Ortega Ferrusola C, Balao da Silva C C, Peña FJ.Mitochondria have been proposed as the major source of reactive oxygen species in somatic cells and human spermatozoa. However, no data regarding the role of mitochondrial ROS production in stallion spermatozoa are available. To shed light on the role of the mitochondrial electron transport chain in the origin of oxidative stress in stallion spermatozoa, specific inhibitors of complex I (rotenone) and III (antimycin-A) were used. Ejaculates from seven Andalusian stallions were collected and incubated in BWW media at 37 °C in the presence of rotenone, antimycin-A or control vehicle. Incubation...
Clinical Research Abstracts of the British Equine Veterinary Association Congress 2015.
Equine veterinary journal    September 17, 2015   Volume 47 Suppl 48 23 doi: 10.1111/evj.12486_53
Martin Giménez T, Aguirre Pascasio CN, de Blas Giral I.Andalusian horses have been proposed as a breed predisposed to equine metabolic syndrome (EMS) phenotype [1] because they are prone to exhibiting regional, generalised adiposity and tendency to laminitis [2]. Insulin dysregulation represents the main pathophysiological cause for all the features of EMS, however there are no epidemiological studies in this breed. Objective: To assess insulin dysregulation through insulin proxies in Andalusian horses with different levels of obesity. Methods: Cross-sectional study. Methods: One hundred and sixty-four Andalusians (78 stallions and 86 mares, 2-15 ...
Characterization of alkaline phosphatase activity in seminal plasma and in fresh and frozen-thawed stallion spermatozoa.
Theriogenology    September 11, 2015   Volume 85, Issue 2 288-295.e2 doi: 10.1016/j.theriogenology.2015.09.007
Bucci D, Giaretta E, Spinaci M, Rizzato G, Isani G, Mislei B, Mari G, Tamanini C, Galeati G.Alkaline phosphatase (AP) has been studied in several situations to elucidate its role in reproductive biology of the male from different mammalian species; at present, its role in horse sperm physiology is not clear. The aim of the present work was to measure AP activity in seminal plasma and sperm extracts from freshly ejaculated as well as in frozen-thawed stallion spermatozoa and to verify whether relationship exists between AP activity and sperm quality parameters. Our data on 40 freshly ejaculated samples from 10 different stallions demonstrate that the main source of AP activity is semi...
Primary gastric rupture in 47 horses (1995-2011).
The Canadian veterinary journal = La revue veterinaire canadienne    September 9, 2015   Volume 56, Issue 9 953-958 doi: 10.1177/0300985814556780
Winfield LS, Dechant JE.The purpose of this retrospective case-control study was to identify factors associated with primary gastric rupture and to investigate if there were differences between etiologies of primary gastric rupture. Compared to the general colic population, Quarter horses were under-represented and Friesians and draft breeds were over-represented in 47 cases of primary gastric ruptures. Horses with primary gastric rupture typically presented with severe clinical and clinicopathological derangements. There were 24 idiopathic gastric ruptures, 20 gastric impaction associated ruptures, and 3 perforating...
A Genome-wide Scan for Selective Sweeps in Racing Horses.
Asian-Australasian journal of animal sciences    September 4, 2015   Volume 28, Issue 11 1525-1531 doi: 10.5713/ajas.14.0696
Moon S, Lee JW, Shin D, Shin KY, Kim J, Choi IY, Kim J, Kim H.Using next-generation sequencing, we conducted a genome-wide scan of selective sweeps associated with selection toward genetic improvement in Thoroughbreds. We investigated potential phenotypic consequence of putative candidate loci by candidate gene association mapping for the finishing time in 240 Thoroughbred horses. We found a significant association with the trait for Ral GApase alpha 2 (RALGAP2) that regulates a variety of cellular processes of signal trafficking. Neighboring genes around RALGAP2 included insulinoma-associated 1 (INSM1), pallid (PLDN), and Ras and Rab interactor 2 (RIN2)...
Elevated testosterone levels in a racing horse due to an XY testicular disorder of sexual development.
Berliner und Munchener tierarztliche Wochenschrift    August 19, 2015   Volume 128, Issue 7-8 335-339 
Dierks C, Sieme H, Piechotta M, Lehner S, Merkt JC, Uphaus H, Klug E, Distl O.A female thoroughbred successful in horse racing was positively tested for high testosterone values. This horse neither showed stallion-like-behaviour nor signs of ambiguous external genitalia. The karyotype of this horse was 2n = 64,XY and the sex-determining region of Y (SRY) PCR was positive. Hair samples tested for naturally testosterone revealed values normal for stallions, and tests for eight synthetic testosterone esters remained negative. The phenotype, ultrasonographic examination, hormone status, cytogenetic evaluation and molecular diagnostics lead to the diagnosis of an XY testicul...
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