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

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 mosaicism
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/366238
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