OMIA:002310-9913 : 60,XX/90,XXY sex chromosome difference of sexual development in Bos taurus (taurine cattle)
Categories: Reproductive system phene
Links to MONDO diseases: No links.
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."
Have human generated variants been created, e.g. through genetic engineering and gene editing
Holstein Friesian (Cattle) (VBO_0000239).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
Cite this entry
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.|
- Created by Imke Tammen2 on 18 Feb 2021
- Changed by Imke Tammen2 on 18 Feb 2021