Gonadal dysgenesis and heterosexual conditions are often associated with sex chromosome abnormalitiesIn this study we report on 2 cases of abnormal sex development involving numerical sex chromosome aberrations in both horse and sheepA 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 careerExternal 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 examinationCytogenetic 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 glandsInternal sex adducts were atrophic as seen after matingCytogenetic analysis revealed the presence of XX/XY mosaicism
Numerical sex chromosome aberrations and abnormal sex development in horse and sheep / G.P. Di Meo, G. Neglia, A. Perucatti, V. Genualdo, D. Incarnato, A. Iannuzzi, G. Romano, P. Parma, L. Iannuzzi. - In: SEXUAL DEVELOPMENT. - ISSN 1661-5425. - 3:6(2010), pp. 329-332. [10.1159/000279289]
Numerical sex chromosome aberrations and abnormal sex development in horse and sheep
P. ParmaPenultimo
;
2010
Abstract
Gonadal dysgenesis and heterosexual conditions are often associated with sex chromosome abnormalitiesIn this study we report on 2 cases of abnormal sex development involving numerical sex chromosome aberrations in both horse and sheepA 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 careerExternal 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 examinationCytogenetic 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 glandsInternal sex adducts were atrophic as seen after matingCytogenetic analysis revealed the presence of XX/XY mosaicism
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