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

In other species: dog , domestic cat , pig , taurine cattle , goat , sheep , gray short-tailed opossum , wood lemming , water buffalo , American mink

Categories: Reproductive system phene , Chromosomal disorder

Links to MONDO diseases:

Mendelian trait/disorder: unknown

Considered a defect: 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)

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002776-9796: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

2024 Cieslak, J., Mackowski, M., Skrzetuska, W., Fidos-Tama, E., Siwinska, N., Szczerbal, I. :
A case of non-mosaic X trisomy (65,XXX) in a Thoroughbred mare confirmed by cytogenetic and molecular analysis. J Appl Genet , 2024. Pubmed reference: 38368284. DOI: 10.1007/s13353-024-00844-5.
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.
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.
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. Veterinary Record 124:169-170, 1989. Pubmed reference: 2922913.

Edit History

  • Created by Imke Tammen2 on 01 Oct 2023