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 CBAbanding 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
Numerical Sex Chromosome Aberrations and Abnormal Sex Development in Horse and Sheep / Di Meo, G.P., Neglia, G., Perucatti, A., Genualdo, V., Iannuzzi, A., Crocco, D., Incarnato, D., Romano, G., Parma, P., Iannuzzi, L.. - In: SEXUAL DEVELOPMENT. - ISSN 1661-5425. - STAMPA. - 3:(2010), pp. 329-332. [10.1159/000279289]
Numerical Sex Chromosome Aberrations and Abnormal Sex Development in Horse and Sheep
NEGLIA, GIANLUCA;
2010
Abstract
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 CBAbanding 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 mosaicismI documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
