A Case of Ambiguous External Genitalia in a Thoroughbred Male Horse with the 63,XO/64,XY Mosaic Karyotype

Sato, Fumio; Hirota, Kei‐ichi; Tozaki, Teruaki; Ito, Katsuhiko; Dhakal, Pramod; Taya, Kazuyoshi; Endo, Yoshiro; Murase, Harutaka; Nambo, Yasuo

doi:10.1292/jvms.11-0473

Cited by 2 publications

(1 citation statement)

References 19 publications

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“…Mosaicism in horses is usually associated with anomalies in the reproductive tract (Paget et al, 2001;Pawlak, Rogalska-Niznik, Cholewiński, & Świtoński, 2000;Sato et al, 2012). These individuals showed an ample range of morphological abnormalities, from gonadal All measurements were performed in the longer diameter of each organ and are expressed in millimetres.…”

Section: Discussionmentioning

confidence: 99%

First case of sterility associated with sex chromosomal abnormalities in a jenny

Dorado

Anaya

Bugno‐Poniewierska

et al. 2016

Reprod Domestic Animals

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Chromosomal abnormalities are one of the main causes of genetic infertility in horses. Currently, their detection rate is rising due to the use of new diagnostic tools employing molecular markers linked to the sex chromosome pair. Despite genetic similarities, there are no previous reports of sterility associated with chromosomal abnormalities in the domestic donkey (Equus asinus). Hereby, we determined the presence of a chromosomal mosaicism in a female donkey with reproductive problems using molecular methodologies developed for horses. A two-and-a-half-year-old jenny characterized by morphological abnormalities of the reproductive tract was cytogenetically analysed using conventional and fluorescent techniques and a group of microsatellite markers (short tandem repeat, STR). At the same time, five ultrasound measures of the reproductive tract were taken and compared with eight contemporary jennies of the same breed. After slaughter, morphological examinations showed that the case study had a blind vaginal vestibule defining an empty pouch that covered the entrance of the cervical os. Histopathological studies demonstrated that this abnormal structure was compatible with a remnant hymen. Molecular markers, STR and fluorescent in situ hybridization determinations revealed that the animal was a 62, XX/61,X mosaic and, therefore, the first case of chromosomal abnormalities in the sex pair reported in donkeys.

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Section: Discussionmentioning

confidence: 99%