title: A tortoiseshell male cat: chromosome analysis and histologic examination of the testis.
abstract: Tortoiseshell coat color is normally restricted to female cats due to X-linkage of the gene that encodes the orange coat color. Tortoiseshell male cats do, however, occur at a low frequency among tortoiseshell cats because of chromosome aberrations similar to the Klinefelter syndrome in man: the extra X chromosome of a 39,XXY karyotype introduces the possibility of an orange and a non-orange allele which produce the mixture of orange and non-orange coat spotting known as tortoiseshell. We analyzed the chromosome complement of a fibroblast culture and did histological examinations of testicular tissue from a tortoiseshell male cat referred to us. Chromosome analysis using RBA-banding consistently revealed a 39,XXY karyotype. Histological examinations of testis biopsies from this cat showed degeneration of the tubules, hyperplasia of the interstitial tissue, and complete loss of germ cells. Immunostaining using anti-vimentin and anti-VASA (DDX4) showed that only Sertoli cells and no germ cells were observed in the testicular tubules. As no sign of spermatogenesis was detected, we conclude that this is a classic case of a sterile, male tortoiseshell cat with a 39,XXY chromosome complement.
authors: Department of Clinical Veterinary and Animal Sciences, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark.
authors: A S
authors: AS
authors: Pedersen
authors: L C
authors: LC
authors: Berg
authors: K
authors: K
authors: Almstrup
authors: P D
authors: PD
authors: Thomsen
mesh_terms: D000818:Animals; D002415:Cats / Q000235:genetics*; D002869:Chromosome Aberrations / Q000662:veterinary*; D053487:DEAD-box RNA Helicases / Q000276:immunology; D005854:Germ Cells / Q000166:cytology; D006200:Hair Color / Q000235:genetics*; D059785:Karyotype; D007713:Klinefelter Syndrome / Q000235:genetics / Q000662:veterinary*; D008297:Male; D012708:Sertoli Cells / Q000473:pathology; D013091:Spermatogenesis / Q000235:genetics; D013737:Testis / Q000473:pathology*; D014746:Vimentin / Q000276:immunology
chemical_list: D014746:Vimentin; D053487:DEAD-box RNA Helicases