Numerical Sex Chromosome Aberrations and Abnormal Sex Development in Horse and Sheep

Autor: D. Crocco, Alessandra Iannuzzi, Pietro Parma, Leopoldo Iannuzzi, Gianluca Neglia, V. Genualdo, Domenico Incarnato, Angela Perucatti, G.P. Di Meo, G. Romano
Přispěvatelé: Di Meo, G. P., Neglia, Gianluca, Perucatti, A., Genualdo, V., Iannuzzi, A., Crocco, D., Incarnato, D., Romano, G., Parma, P., Iannuzzi, L.
Jazyk: angličtina
Rok vydání: 2009
Předmět:
Zdroj: Sexual development
3 (2009): 329–332. doi:10.1159/000279289
info:cnr-pdr/source/autori:Di Meo GP, Neglia G, Perucatti A, Genualdo V, Iannuzzi A, Crocco D, Incarnato D, Romano G, Parma P, Iannuzzi L/titolo:Numerical Sex Chromosome Aberrations and Abnormal Sex Development in Horse and Sheep./doi:10.1159%2F000279289/rivista:Sexual development (Print)/anno:2009/pagina_da:329/pagina_a:332/intervallo_pagine:329–332/volume:3
Popis: Gonadal dysgenesis and heterosexual conditions are often associated with sex chromosome abnormalities. In this study we report on 2 cases of abnormal sex development involving numerical sex chromosome aberrations in both horse and sheep. A 17-month-old Standardbred filly was sent to an equine fertility centre as an embryo donor due to its reduced size, being much smaller than a racehorse filly of the same age, which excluded it from an athletic career. External genitalia were clinically normal but manual palpation of the reproductive tract showed the presence of a small underdeveloped uterus and ovaries, as confirmed by ultrasonographic examination. Cytogenetic investigation by CBA-banding revealed an abnormal karyotype with X chromosome monosomy (2n = 63,X). A 18-month-old ewe showed distinct heterosexual traits with presence of a vulva (with enlarged clitoris), well-developed abdominal testes and mammary glands. Internal sex adducts were atrophic as seen after mating. Cytogenetic analysis revealed the presence of XX/XY mosaicism.
Databáze: OpenAIRE