OMIA:002776-9796 : Sex chromosome difference of sexual development, generic in Equus caballus (domestic horse)

In other species: dog , domestic cat , ass (donkey) , Przewalski's horse , pig , taurine cattle , goat , mouflon , sheep , gray short-tailed opossum , argali , bighorn sheep , wood lemming , water buffalo , American mink

Categories: Reproductive system phene , Chromosomal phene

Links to relevant human diseases in MONDO:

Single-gene trait/disorder: unknown

Disease-related: yes

Cross-species summary: This is a group of differences of sexual development (DSD) due to abnormal sex chromosome constitutions (e.g., monosomy; trisomy; mosaicism) (adopted from MESH:D058533)

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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:002776-9796: 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 Sinovich, M., Monné Rodriguez, J., Pieńkowska-Schelling, A., Schelling, C., Kelly, P.G. :
An unusual case of a monorchid horse with an abdominally retained testicle. Sex Dev 19:1-9, 2025. Pubmed reference: 40199258. DOI: 10.1159/000545559.
2024 Bugno-Poniewierska, M., Jankowska, M., Raudsepp, T., Kowalska, K., Pawlina-Tyszko, K., Szmatola, T. :
Molecular cytogenetic screening of sex chromosome abnormalities in young horse populations. Equine Vet J 56:786-795, 2024. Pubmed reference: 38785417. DOI: 10.1111/evj.14097.
2023 Suvá, M., Arnold, V.H., Wiedenmann, E.A., Jordan, R., Galvagno, E., Martínez, M., Vichera, G.D. :
First sex modification case in equine cloning. PLoS One 18:e0279869, 2023. Pubmed reference: 36598913. DOI: 10.1371/journal.pone.0279869.
2021 Pirosanto, Y., Laseca, N., Valera, M., Molina, A., Moreno-Millán, M., Bugno-Poniewierska, M., Ross, P., Azor, P., Demyda-Peyrás, S. :
Screening and detection of chromosomal copy number alterations in the domestic horse using SNP-array genotyping data. Anim Genet 52:431-439, 2021. Pubmed reference: 34013628. DOI: 10.1111/age.13077.
2018 Neuhauser, S., Handler, J., Schelling, C., Pieńkowska-Schelling, A. :
Disorder of sexual development in a mare with an unusual tentative mosaic Karyotype: 63,X/64,Xdel(Y). Sex Dev 12:232-238, 2018. Pubmed reference: 30071527. DOI: 10.1159/000490861.
2009 Di Meo, G.P., Neglia, G., Perucatti, A., Genualdo, V., Iannuzzi, A., Crocco, D., Incarnato, D., Romano, G., Parma, P., Iannuzzi, L. :
Numerical sex chromosome aberrations and abnormal sex development in horse and sheep. Sex Dev 3:329-32, 2009. Pubmed reference: 20110649. DOI: 10.1159/000279289.
2001 Wieczorek, M., Switoński, M., Yang, F. :
A low-level X chromosome mosaicism in mares, detected by chromosome painting. J Appl Genet 42:205-9, 2001. Pubmed reference: 14564053.
1999 Mäkinen, A., Hasegawa, T., Mäkilä, M., Katila, T. :
Infertility in two mares with XY and XXX sex chromosomes. Equine Vet J 31:346-9, 1999. Pubmed reference: 10454097. DOI: 10.1111/j.2042-3306.1999.tb03829.x.
1993 Nie, G.J., Momont, H.W., Buoen, L. :
A Survey of Sex Chromosome Abnormalities in 204 Mares Selected for Breeding Journal of Equine Veterinary Science 13:456-459, 1993.
1990 Power, M.M., Leadon, D.P. :
Diploid-triploid chimaerism (64, XX/96,XXY) in an intersex foal. Equine Vet J 22:211-4, 1990. Pubmed reference: 2361512. DOI: 10.1111/j.2042-3306.1990.tb04250.x.
1989 Moreno-Millan, M., Delgado Bermejo, J.V., Lopez Castillo, G. :
An intersex horse with X chromosome trisomy. Vet Rec 124:169-70, 1989. Pubmed reference: 2922913. DOI: 10.1136/vr.124.7.169.

Edit History


  • Created by Imke Tammen2 on 01 Oct 2023
  • Changed by Imke Tammen2 on 11 Sep 2025