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

Categories: Reproductive system phene

Mendelian trait/disorder: no

Considered a defect: 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-specific description: 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 has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:002310-9913: 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.

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, 2021. Pubmed reference: 33498673. DOI: 10.3390/ani11020285.
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.

Edit History

  • Created by Imke Tammen2 on 18 Feb 2021
  • Changed by Imke Tammen2 on 18 Feb 2021