[Down's disease and a normal karyotype].
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Biomedical subjects
Publications and source records attributed to V I Gavrilov.
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Among 330 patients with severe mental retardation who were consulted at random for medico-genetic purposes (excluding phenylketonuria and Down's disease), 27,3% constituted retarded patients due to genetic diseases, 10%--to exogenous factors. Families with a high genetical risk (25%-50% for sibs) constituted 20%. In the group of patients with severe mental retardation, but without signs of organic lesion in the neurological state or multiple congenital anomalies, there was a higher percentage of consanguineous parents and affected sibs, than in the group of patients with residual-organic neurological changes and in the group of patients with the so-called malformation retardation syndromes.
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A persistent infection of the continuous embryonal pig kidney cell cultures induced by a rat parvovirus (the Kilhem virus) did not alter morphological or karyological characteristics of the cultures, and caused no transformation of these. The data obtained suggests the resistance of the pig karyotype to the virus under investigation.
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The brain cells of the suckling mice line MSB-1-K-33 chronically infected by an attenuated variant of the Japanese encephalitis virus and of cell clones isolated from the later, had mainly a neartetraploid keryotype (the modal class 70-71 chromosomes). In metaphases of cloned cell populations, an increase of number of the chromosomes was especially obvious in clones 3 and 4 (modal classes in both cases were 76-77 chromosomes). Cell population of clone 1 differed insignificantly from that of the parental line MSB-1-K-33 in respect of its cytogenetic characteristics. In metaphases of the line MSB-1-K-33 and clones 1, 3, and 4, a high frequency of chromosomal damages was observed. The most frequent type of structural chromosome aberrations were chromatid breaks. The karyotypes of clones 3 and 4 were characterized by presence of a large marker metacentric chromosome in 50-53% of the cells. The data obtained suggest a continuous effect of the Japanese encephalitis virus on the karyotype of cells in infected culture.
The authors studied the clinical features in 19 patients with the mosaic variety of Down's disease and 63 patients with trisomia in relation to the 21st chromosome. It was demonstrated that mild forms of mental retardation are mainly seen in mosaicism rather than in the trisome variety, although severe forms of retardation may be seen in the first group as well. A full correlation between the severity of mental retardation and the % of the aneuploid cell content in the peripheral blood was not always observed.
Duck embryo cell (DEC) cultures were used for the study of arbovirus reproduction. High sensitivity of DEC cultures to Japanese encephalitis, West Nile, Tyuleniy, Sakhalin and Baku viruses was established. DEC cultures are recommended for investigation of arbovirus reproduction.
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