The Use of Genomic Screening for the Detection of Chromosomal Abnormalities in the Domestic Horse: Five New Cases of 65,XXY Syndrome in the Pura Raza Español Breed
Sex chromosomal abnormalities are a major cause of reproductive failure in horses. While some horses with abnormal karyotypes exhibit reproductive abnormalities, others appear normal, remaining misdiagnosed until late age. The Pura Raza Español breeding program screens all horses for these abnormali...
| Autores: | , , , , , , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2024 |
| País: | España |
| Institución: | Universidad de Sevilla (US) |
| Repositorio: | idUS. Depósito de Investigación de la Universidad de Sevilla |
| OAI Identifier: | oai:dnet:idus________::d92ec2b834c7ec90b83e466aeeeb0dee |
| Acceso en línea: | https://hdl.handle.net/11441/186125 https://doi.org/10.3390/ani14172560 |
| Access Level: | acceso abierto |
| Palabra clave: | CNA cytogenetics Equine Genomic chromosomal screening Sex chromosomal abnormalities 65XXY |
| Sumario: | Sex chromosomal abnormalities are a major cause of reproductive failure in horses. While some horses with abnormal karyotypes exhibit reproductive abnormalities, others appear normal, remaining misdiagnosed until late age. The Pura Raza Español breeding program screens all horses for these abnormalities using genomics before adding them to the studbook. This process includes an initial assessment using the results of Short Tandem Repeat (STR) parentage testing, followed by confirmation using Single-Nucleotide Polymorphism (SNP) analysis for copy number aberrations. Hereby, we identified five new cases of 65,XXY syndrome among 27,330 foals over two breeding seasons. These horses were flagged as possibly affected by a chromosomal number aberration (CNA) due to abnormal STR and confirmed as 65,XXY by genomic analysis. All of them showed a male phenotype. One horse showed abnormal gonad development, whereas the others did not have visible abnormalities. This study represents the largest group of horses diagnosed with 65,XXY and emphasizes the importance of genomic screening for chromosomal testing. |
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