A Disorder of Sex Development in a Holstein-Friesian Heifer with a Rare Mosaicism (60,XX/90,XXY): A Genetic, Anatomical, and Histological Study.

In this study, we describe an eighteen-month-old Holstein-Friesian heifer with a deformed vulva, located abdominally. The heifer showed typical signs of estrus. A comprehensive anatomical and histopathological examination revealed a blind-ended vagina and an additional section of urethra, which became a part of the shortened penis. Cytogenetic analysis showed the presence of two cell lines: 60,XX and 90,XXY. The frequency of the triploid cell line was low (3%) in leukocytes and elevated (35%) in fibroblasts. The molecular detection of Y-linked genes (SRY and AMELY) in the blood, skin, hair follicles, and buccal epithelial cells confirmed the presence of a cell line carrying the Y chromosome. Genotyping of 16 microsatellite markers in DNA isolated from hair follicles and fibroblast culture showed the presence of one (homozygous) or two variants (heterozygous) at all the studied loci, and allowed chimerism to be excluded. We concluded that the heifer had diploid/triploid (60,XX/90,XXY) mosaicism. To our knowledge, this is only the fifth such case to be reported worldwide in this species. Since cytogenetic studies are routinely performed on in vitro cultured leukocytes, we suspect that the prevalence of this chromosome abnormality is underestimated, as it is known from published reports that the frequency of the triploid cell line is usually very low in leukocytes.

Congenital Malformations in a Holstein-Fresian Calf with a Unique Mosaic Karyotype: A Case Report.

A Holstein-Fresian calf with multiple congenital malformations was subjected postmortem to anatomical and genetic investigation. The calf was small (20 kg), had shortened limbs and was unable to stand up. It lived only 44 days. Detailed anatomical investigation revealed the following features: head asymmetry, the relocation of the frontal sinus and eye orbits, hypoplastic thymus without neck part, ductus Botalli, unfinished obliteration in umbilical arteries, and a bilateral series of tooth germs in the temporal region. Cytogenetic examination, performed on in vitro cultured fibroblasts, showed a unique mosaic karyotype with a marker chromosome-60,XX[9 2%]/60,XX,+mar[8%], which was for the first time described in cattle. No other chromosome abnormalities indicating chromosome instabilities, like chromatid breaks or gaps were identified, thus teratogenic agent exposure during pregnancy was excluded. The marker chromosome (mar) was small and it was not possible to identify its origin, however, sequential DAPI/C (4',6-diamidino-2-phenylindole) band staining revealed a large block of constitutive heterochromatin, which is characteristic for centromeric regions of bovine autosomes. We suppose that the identified marker chromosome was a result of somatic deletion in an autosome and its presence could be responsible for the observed developmental malformations. In spite of the topographic distance among the affected organs, we expected a relationship between anatomical abnormalities. To the of our best knowledge, this is the first case of a mosaic karyotype with a cell line carrying a small marker chromosome described in a malformed calf.

Morphology of the inferior pharyngeal bones of white bream (Blicca bjoerkna) in River Warta.

The inferior pharyngeal bones are a characteristic feature of the Cyprinidae. Morphology of inferior pharyngeal bones is important in the diagnosis of carnivorous food, or determining the diet of fishes. Due to the lack of literature data, the aim of the study was to examine the morphology of the inferior pharyngeal bone in detail. 102 Blicca bjoerkna specimens caught in the River Warta (Poland) were analysed. 204 inferior pharyngeal bones were collected. The parameters of the inferior pharyngeal bones correlated with the measured head features and the total fish length. The arches of inferior pharyngeal bones did not have directional asymmetry for the two main parameters (height and width of inferior pharyngeal bone). However, there was a left-sided directional asymmetry of the ventral part of inferior pharyngeal bone. In the case of the B. bjoerkna from River Warta, large differences in terms of individual parameters of inferior pharyngeal bones were observed. Fluctuation asymmetry was low. Shape of inferior pharyngeal bones was very round. In total, 12 teeth formulas were described. The 35.29% of the fish had formula different than described in the literature 2.5-5.2 and more teeth in the right arches. Following identification, measurements of the structures enable estimation of the lengths and weights of prey to be determined from biometric relationships. Analysis of body morphological features in combination with pharyngeal bone morphology could show a hybrid in the Warta river's population.