Peer-reviewed veterinary case report
A case of an intersex horse with 63,X/64,XX/65,XX,del(Y)(q?) karyotype.
- Journal:
- Cytogenetic and genome research
- Year:
- 2008
- Authors:
- Bugno, M et al.
- Affiliation:
- Department of Immuno- and Cytogenetics
- Species:
- horse
Plain-English summary
A study was done on an intersex horse, which is a horse that has both male and female characteristics. This horse had a body shape typical of a male, but its private parts were not fully developed, showing both a vulva and a penis. Genetic tests revealed that the horse had three different sets of chromosomes, including some that indicated a missing part of the Y chromosome, which is usually associated with male traits. Further DNA testing showed that certain male-specific genes were absent, suggesting that the horse's condition was due to a deletion of a part of the Y chromosome. The findings indicate that the horse's intersex condition is linked to genetic abnormalities.
Abstract
Cytogenetic and molecular genetic studies of an intersex horse have been carried out. The investigated animal had overall male body conformation; however, its external genitalia consisted of incompletely developed vulva and penis. The X and Y chromosome painting probes detected three cell lines in the examined horse: 63,X, 64,XX and 65,XX with a fragment of a Y chromosome (del Y). The DNA analysis with the PCR and PCR/RFLP methods showed absence of SRY,AMELY and ZFY genes as well as of six Y microsatellite markers (YM2, YP9, YJ10, YE1, YH12, and YA16). These results suggest that the Y chromosome fragment detected in the investigated animal was the result of a deletion of a euchromatic fragment comprising the above-mentioned markers.
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Search related cases →Original publication: https://pubmed.ncbi.nlm.nih.gov/18467835/