y asse z o D-6 3 oo Giessen (Bundesre p. Deutschland) Summary i. With the aim to elucidate the etiological role of chromosome anomalies in pathology of domestic animals karyotype analyses had been performed routinically in 8 47 newborn calves with congenital malformations, furthermore in adult cattle with hereditary diseases, andin individuals with malformations of genital organs. The investigations have been realized during the past 10 years within the three large breeds of the cattle population of Hessen. Chromosome anomalies of different types have been found in 141 probands. 2. Considering the impossibility in karyotyping all calves with congenital anomalies extensively, most of them being stillborn, and in regard of the impractibility of a cytogenetic exploration of whole the population, it seems to be impossible to derive more than rough estimations of the real frequencies of chromosome anomalies within the observed population. 3. The first rank of different types of chromosome anomalies is occupied by the z / 29 translocation, followed by the trisomy 1 8. (In this connection the XX /XY chimerism in freemartins is not taken in consideration because its frequency is depending exclusively from the frequencies of heterozygous twins within the different breeds). Considering their real frequencies both types of chromosome anomalies dont possess a noteworthy economical importance within the observed population in the present situation. All other chromosomal anomalies, especially autosomal structural defects, too, are found only sporadically, though accumulated in certain families. This is the case in bovine hereditary parakeratosis, and in hereditary nanism. 4. The occurrence of several probands with the trisomy 1 8 syndrome (lethal brachygnathia trisomy syndrome) in a family together with gonosomal numerical anomalies is estimated to be the expression of a familiar disposition to disturbances of meiosis, resp. mitosis. 5. On the basis of autopsy findings in 1 8 cases of trisomy i8 syndrome, and those of 9 cases of bovine hereditary parakeratosis the symptomatology of those, by chromosome anomalies caused, resp. with chromosome anomalies combined, syndromes was determined. Significantly increased frequencies of autosomal breaks in parents of parakeratosis calves may be used as markers in order to identify heterozygotes in families suspected of this hereditary disturbance of zinc metabolism. (1) This article has been presented to the 3 rd Colloquium of Cytogenetics of Domestic animals, May 3r-J!e 2 I 9 77, Jouy-en-Josas, France.
A considerable dose reduction without loss of diagnostic information is achievable in dental CT. Dose-reducing examination protocols like the one presented may further expand the use of preoperative dental CT.
Chronic inflammatory bowel disease (CIBD) and colorectal adenoma are considered as precancerous conditions and lesions of large bowel carcinoma, respectively. They, therefore, may be used to study the behavior of such different factors as tumor-associated antigens and nuclear DNA content abnormalities in colorectal carcinogenesis. Tissue concentrations of carcinoembryonic antigen (CEA) were significantly higher in those precancerous lesions (CIBD: 61 k 11.2 ng/mg, adenoma: 70 2 6 ng/mg; mean ? standard error of the mean) than in normal colonic mucosa (36 ? 4.7 ng/mg). Colorectal carcinoma had still higher tissue levels (437 _t 108.2 ng/mg). No correlation between tissue CEA and tumor differentiation could be found, but there was a significant difference between aneuploid (747 _t 354 ng/mg) and diploid (139 -+ 43 ng/mg) tumors. Using flow cytometry DNA aneuploidy was present in 31.6%,10.5%, and 51.6% of CIBD, colorectal adenoma, and carcinoma, respectively. These data suggest that the occurrence of aneuploidy is not strongly dependent on a malignant transformation, but it may also be present in premalignant colorectal lesions without cellular dysplasia.
Three further cases of the recently discovered “trisomy-brachygnathia syndrome” in cattle have been described. The syndrome consists of autosomal trisomy, brachygnathia inferior, and, in some cases, malformations such as arthrogryposis, hydrocephalus, cryptorchism, and heart anomalies. An indication of the possible genetical etiology of the syndrome is given by the teratograms of the sires.
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