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OMIA:002310-9913 : 60,XX/90,XXY sex chromosome difference of sexual development in Bos taurus (taurine cattle)

Categories: Reproductive system phene , Chromosomal phene

Single-gene trait/disorder: no

Disease-related: yes

Key variant known: no

Cross-species summary: This is a type of sex chromosome difference of sexual development (DSD) due to diploid/triploid (60,XX/90,XXY) mosaicism.

Species summary: Szczerbal et al. (2021) "describe an eighteen-month-old Holstein-Friesian heifer with a deformed vulva, located abdominally. The heifer showed typical signs of estrus. A comprehensive anatomical and histopathological examination revealed a blind-ended vagina and an additional section of urethra, which became a part of the shortened penis. Cytogenetic analysis showed the presence of two cell lines: 60,XX and 90,XXY."

Breed: Holstein Friesian (Cattle) (VBO_0000239).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).

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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:002310-9913: 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.

2023 Iannuzzi, A., Iannuzzi, L., Parma, P. :
Molecular cytogenetics in domestic bovids: A review. Animals (Basel) 13:944, 2023. Pubmed reference: 36899801. DOI: 10.3390/ani13050944.
2021 Szczerbal, I., Komosa, M., Nowacka-Woszuk, J., Uzar, T., Houszka, M., Semrau, J., Musial, M., Barczykowski, M., Lukomska, A., Switonski, M. :
A disorder of sex development in a Holstein-Friesian heifer with a rare mosaicism (60,XX/90,XXY): A genetic, anatomical, and histological study. Animals (Basel) 11:285, 2021. Pubmed reference: 33498673. DOI: 10.3390/ani11020285.
2009 Villagómez, D.A., Parma, P., Radi, O., Di Meo, G., Pinton, A., Iannuzzi, L., King, W.A. :
Classical and molecular cytogenetics of disorders of sex development in domestic animals. Cytogenet Genome Res 126:110-31, 2009. Pubmed reference: 20016161. DOI: 10.1159/000245911.
2007 Meinecke, B., Drogemuller, C., Kuiper, H., Burstel, D., Wohlsein, P., Ebeling, S., Wehrend, A., Meinecke-Tillmann, S. :
A diploid-triploid (60,XX/90,XXY) intersex in a Holstein heifer. Sex Dev 1:59-65, 2007. Pubmed reference: 18391516. DOI: 10.1159/000096239.
1978 Dain, A.R., Bridge, P.S. :
A chimaeric calf with XY/XXY mosaicism and intersexuality. J Reprod Fertil 54:197-201, 1978. Pubmed reference: 712707. DOI: 10.1530/jrf.0.0540197.
1977 Herzog, A., Höhn, H., Rieck, G. :
Survey of recent situation of chromosome pathology in different breeds of German cattle. Ann Genet Sel Anim 9:471-91, 1977. Pubmed reference: 22896550. DOI: 10.1186/1297-9686-9-4-471.

Edit History


  • Created by Imke Tammen2 on 18 Feb 2021
  • Changed by Imke Tammen2 on 18 Feb 2021
  • Changed by Imke Tammen2 on 08 Dec 2025