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OMIA:002979-9796 : Aneuploidy, monosomy, sex chromosome in Equus caballus (domestic horse)

In other species: dog , domestic cat , ass (donkey) , pig , llama , taurine cattle , sheep , alpaca , water buffalo

Categories: Reproductive system phene , Chromosomal phene

Single-gene trait/disorder: no

Disease-related: unknown

Key variant known: no

Cross-species summary: This phene includes information about differences of sexual development (DSD) in animals due to chromosomal anomalies.

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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:002979-9796: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2025 Switonski, M., Szczerbal, I., Nowacka-Woszuk, J. :
From cytogenetics to cytogenomics: a new era in the diagnosis of chromosomal abnormalities in domestic animals. J Appl Genet 66:661-673, 2025. Pubmed reference: 39869248. DOI: 10.1007/s13353-025-00943-x.
2023 Demyda-Peyrás, S., Laseca, N., Anaya, G., Kij-Mitka, B., Molina, A., Karlau, A., Valera, M. :
Prevalence of sex-related chromosomal abnormalities in a large cohort of Spanish purebred horses. Animals (Basel) 13:539, 2023. Pubmed reference: 36766428. DOI: 10.3390/ani13030539.
2020 Szczerbal, I., Nowacka-Woszuk, J., Kopp-Kuhlman, C., Mackowski, M., Switonski, M. :
Application of droplet digital PCR in diagnosing of X monosomy in mares. Equine Vet J 52:627-631, 2020. Pubmed reference: 31793061. DOI: 10.1111/evj.13214.
2012 Raudsepp, T., Das, P.J., Avila, F., Chowdhary, B.P. :
The pseudoautosomal region and sex chromosome aneuploidies in domestic species. Sex Dev 6:72-83, 2012. Pubmed reference: 21876343. DOI: 10.1159/000330627.
2005 Kakoi, H., Hirota, K., Gawahara, H., Kurosawa, M., Kuwajima, M. :
Genetic diagnosis of sex chromosome aberrations in horses based on parentage test by microsatellite DNA and analysis of X- and Y-linked markers. Equine Vet J 37:143-7, 2005. Pubmed reference: 15779627. DOI: 10.2746/0425164054223787.
1993 Buoen, L.C., Zhang, T.Q., Ruth, G.R., Weber, A.F., Kittleson, S.L. :
Sterility associated with an XO karyotype in a miniature horse mare. Equine Vet J 25:164-5, 1993. Pubmed reference: 8467778. DOI: 10.1111/j.2042-3306.1993.tb02930.x.
1990 Stewart-Scott, I.A., Pearce, P.D., Burkin, D.J. :
Further cases of equine sex chromosome abnormalities. N Z Vet J 38:54-6, 1990. Pubmed reference: 16031576. DOI: 10.1080/00480169.1990.35616.
1987 Bowling, A.T., Millon, L., Hughes, J.P. :
An update of chromosomal abnormalities in mares. J Reprod Fertil Suppl 35:149-55, 1987. Pubmed reference: 3479571.
1986 Enbergs, H., Schulte-Beckhausen, W. :
[Sex chromosome anomalies in mares and cytogenetic investigations on mares with severe fertility disturbances] Zuchthygiene 21:105-114, 1986.
1978 Blue, M.G., Bruère, A.N., Dewes, H.F. :
The significance of the XO syndrome in infertility of the mare. N Z Vet J 26:137-41, 1978. Pubmed reference: 277835. DOI: 10.1080/00480169.1978.34521.
Bruère, A.N., Blue, M.G., Jaine, P.M., Walker, K.S., Henderson, L.M., Chapman, H.M. :
Preliminary observations on the occurrence of the equine XO syndrome. N Z Vet J 26:145-6, 1978. Pubmed reference: 277837. DOI: 10.1080/00480169.1978.34523.

Edit History


  • Created by Imke Tammen2 on 11 Sep 2025
  • Changed by Imke Tammen2 on 11 Sep 2025