| Autor: |
Di Meo GP; National Research Council, ISPAAM, Laboratory of Animal Cytogenetics and Gene Mapping, Naples, Italy., Neglia G, Perucatti A, Genualdo V, Iannuzzi A, Crocco D, Incarnato D, Romano G, Parma P, Iannuzzi L |
| Jazyk: |
angličtina |
| Zdroj: |
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation [Sex Dev] 2009; Vol. 3 (6), pp. 329-32. Date of Electronic Publication: 2010 Jan 27. |
| DOI: |
10.1159/000279289 |
| Abstrakt: |
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: |
MEDLINE |
| Externí odkaz: |
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