RESUMEN
Here we describe an eight-year-old miniature schnauzer (MS) dog from Brazil with Persistent Mullerian Duct Syndrome (PMDS) and the single base pair substitution in AMHR2 exon 3, first detected in this breed in the USA. This finding is evidence of mutation dissemination to South America. In PMDS, a type of XY Disorder of Sex Development (DSD), dogs with a male karyotype and external phenotype also have a uterus, oviducts, and a cranial vagina internally. Approximately half of PMDS MS are unilaterally or bilaterally cryptorchid and many develop pyometra and/or Sertoli cell tumor. Bilateral Sertoli cell testicular tumors were present in this case, and the dog died a few days after surgical castration and hysterectomy. Although the karyotype was compatible with male chromosomal sex, a Robertsonian translocation was also identified, which may be an incidental finding. This report emphasizes the importance of cytogenetic and molecular genetic analyses, along with clinical examination, to identify chromosomal or genetic variations associated with canine PMDS. These are helpful tools to obtain early diagnosis in the MS, which is important to improve health outcomes for affected dogs and to reduce the prevalence of PMDS and cryptorchidism in this breed by avoiding the mating of carriers.
Asunto(s)
Trastorno del Desarrollo Sexual 46,XY/diagnóstico , Enfermedades de los Perros/diagnóstico , Mutación/genética , Animales , Brasil , Trastorno del Desarrollo Sexual 46,XY/genética , Enfermedades de los Perros/genética , Perros , MasculinoRESUMEN
The chromosome constitution of Alouatta belzebul was studied with G-, C-, and silver staining. In ten specimens identified as Alouatta belzebul, the chromosome constitution of males (2n = 49) differed from that of females (2n = 50) owing to a Y-autosome translocation. In another single female specimen, probably Alouatta belzebul nigerrima, the diploid chromosome number was also 50, though its karyotype was drastically different from that of Alouatta belzebul belzebul. Chromosome studies, taken together with phenotypic and field observations, suggest that Alouatta belzebul belzebul is phenotypically variable in respect to pelage coloration. This attribute is therefore unreliable for the precise identification of Alouatta belzebul subspecies. Conversely, relatively minor phenotypic differences, allowing for the characterization of subspecies within a same species, coexist with unparalleled, drastic karyotypic divergence. These findings clearly question gross morphological attributes as discriminative characteristics of Alouatta belzebul subspecies.