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OMIA:000393-9796 : Tetragametic chimerism (including Freemartin) in Equus caballus (domestic horse)

In other species: white-tufted-ear marmoset , dog , domestic cat , pig , red deer , taurine cattle , sheep , bighorn sheep , water buffalo

Categories: Reproductive system phene , Chromosomal phene

Single-gene trait/disorder: unknown

Disease-related: yes

Cross-species summary: This is a type of sex chromosome difference of sexual development (DSD). Tetragametic chimerism is a rare, sex chromosome difference of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins. [updated from Orphanet : 199310 ] Freemartin or free-martin is an infertile female animal which is the twin of a male animal whose anti-Müllerian hormones affected its development in utero. Genetically the animals are chimeric (microchimerism, XX/XY leukocyte chimerism) - some stem cells from the male twin are received during in utero development via vascular connections between placentas. The condition is mostly reported in ruminants due to their multicotyledonary placenta type. Phene was renamed to 'Tetragametic chimerism' [16/11/2022]

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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000393-9796: 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.
2014 Demyda-Peyrás, S., Anaya, G., Bugno-Poniewierska, M., Pawlina, K., Membrillo, A., Valera, M., Moreno-Millán, M. :
The use of a novel combination of diagnostic molecular and cytogenetic approaches in horses with sexual karyotype abnormalities: a rare case with an abnormal cellular chimerism. Theriogenology 81:S0093-691X(14)00074-0:1116-22, 2014. Pubmed reference: 24612694. DOI: 10.1016/j.theriogenology.2014.01.040.

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  • Created by Imke Tammen2 on 15 Feb 2023