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  • 1
    Electronic Resource
    Electronic Resource
    X-linked anhidrotic ectodermal dysplasia and de novo t(X;1) in a female (1991)
    Springer
    Human genetics 〈Berlin〉 87 (1991), S. 338-340 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A de novo translocation (X;1)(q13.1;p36.33) was found in a 2-year-old girl with typical clinical features of X-linked anhidrotic ectodermal dysplasia (EDA). The breakpoint at Xq13.1 is approximately the same as has been described in 2 other EDA females with X;autosome translocations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00200916
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  • 2
    Electronic Resource
    Electronic Resource
    Molecular cytogenetic study of patients with Pallister-Killian syndrome (1993)
    Springer
    Human genetics 〈Berlin〉 91 (1993), S. 121-127 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The Pallister-Killian syndrome (PKS) is characterized by tissue limited chromosomal mosaicism, i.e. the presence of a supernumerary metacentric chromosome [i(12p)] often confined to skin fibroblasts while the karyotype of cultured lymphocytes is normal. In the present study, chromosome painting by chromosomal in situ suppression (CISS) hybridization and interphase cytogenetic procedures employing biotinylated or digoxigenin labelled probes was carried out. These probes comprised a chromosome 12 specific library (LA 12NSO1) and chromosome 12 centromere specific α-satellite (pSP12-1). They were used to analyse and quantify the presence of i(12p) in lymphocytes, granulocytes/monocytes, skin fibroblasts and buccal mucosal cells from five patients and one aborted fetus with PKS, and ten normal donors. CISS hybridization on mitotic skin fibroblasts reliably indicated the presence of i(12p) cells, even when metaphases of poor quality were included in the analysis. Two of the five patients showed i(12p) in a small proportion (≤0.5%) of the cultured lymphocytes too. The interphase cytogenetics procedure did not reveal the isochromosome in lymphocytes or granulocytes/monocytes in any of the patients. Two of the six patients had a twofold increase in the number of buccal mucosal cells with three hybridization signals over control values. However, for mucosal cells, methodological improvements are required. For cytogenetic diagnosis of PKS, cultured fibroblasts subjected to chromosome painting by CISS hybridization with a chromosome 12 specific library probe are recommended.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00222711
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  • 3
    Electronic Resource
    Electronic Resource
    Trisomy 7 in non-neoplastic tubular epithelial cells of the kidney (1995)
    Springer
    Human genetics 〈Berlin〉 95 (1995), S. 149-156 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The cellular origin of trisomy 7 in non-neoplastic kidney tissue specimens from 10 patients, seven with malignant tumors and three with non-neoplastic kidney diseases, was studied by the MAC (morphology antibody chromosomes) technique, which allows analysis of cellular morphology/histology, immunophenotype, and chromosomal aneuploidy by conventional cytogenetics, and/or fluorescent in situ hybridization in both interphase and mitotic cells. In primary cultures, trisomy 7 was detected primarily in cytokeratin-positive cells. Among freshly isolated renal cells, the trisomy was mainly observed in proximal tubular cells positive to brush-border antigen, and, to a lesser extent, in distal tubular cells positive to Tamm-Horsfall glycoprotein. The frequency of trisomy 7 in lymphocytes expressing CD3 or CD22 antigens isolated from non-neoplastic and tumor tissues was substantially lower than in the epithelial cells and was not increased compared with that in control lymphocytes from peripheral blood. The results thus demonstrate that the non-neoplastic kidney cells with trisomy 7 are mainly normal epithelial cells, preferentially those of the proximal tubule.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00209393
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  • 4
    Electronic Resource
    Electronic Resource
    Evidence of somatic mutations in osteoarthritis (1996)
    Springer
    Human genetics 〈Berlin〉 98 (1996), S. 651-656 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We examined, cytogenetically and by in situ hybridization (ISH) techniques, the synovia, osteophytes, and articular cartilage from 32 patients with pronounced osteoarthritis (OA), a prevalent form of arthropathy characterized by progressive reduction of articular cartilage, and synovial samples from 17 control patients. In short-term cultures, clonal chromosome aberrations, in particular the gain of chromosomes 7 (+7) and 5 (+5), were found to be strongly associated with OA. These aberrations were found in almost 90% of the cultures from synovia and osteophytes, whereas only 1/11 synovial samples from joints unequivocally unaffected by OA had cells with +5 or +7. The in vivo nature of trisomy 7 was demonstrated by ISH on uncultured cells, and serial passaging showed that cells with +7 had a proliferative advantage in vitro. Thus, the combined data indicate that cells with somatic mutations appear early and may be influential in the disease process leading to OA.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050278
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  • 5
    Electronic Resource
    Electronic Resource
    The effects of incorporated tritium and bromodeoxyuridine on the frequency of sister chromatid exchanges (1983)
    Springer
    Chromosoma 88 (1983), S. 11-15 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Cells in third mitosis treated during the first cell cycle with 3H-TdR and during the next two cycles with BrdU (without 3H-TdR) show a typical pattern of chromosome differentiation which allows identification of sister chromatid exchanges occurring during the first (SCE1, second (SCE2) and third cycles (SCE3). Chromosomes labeled only with 3H-TdR had the most SCEs; those labeled only with BrdU, the second highest number; and those labeled with 3H-TdR plus BrdU, the fewest. Since BrdU and 3H-TdR are well known inducers of SCEs, the relatively low frequency of exchanges produced by the combined action of these two compounds is paradoxical. — It is assumed that SCEs are generated by the abnormal recombination of double-strand DNA breaks occurring at the junctions between completely and partially duplicated replicon clusters. Thus, agents that induce absolute blocks to DNA fork displacement will favor the appearance of SCEs because double-strand breaks have more time to occur at junctions. Conversely, agents that inhibit the initiation of replication will decrease the probability of SCEs. Ionizing radiation delays the onset of cluster replication. Therefore, in 3H-TdR plus BrdU-substituted chromosomes the radiation from tritium may inhibit the appearance of BrdU-induced SCEs. Since the inhibition does not exist in chromosomes substituted only with BrdU, the frequency of SCEs in these elements is higher than in double-substituted chromosomes. During the first cell cycle the onset of cluster replication is normal. However, the incorporation of 3H-TdR in the replication fork may enhance the appearance of double-strand breaks, thus inducing a high frequency of SCEs.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00329498
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  • 6
    Electronic Resource
    Electronic Resource
    Meiotic Studies in Dysdercus Guérin Méneville 1831 (Heteroptera: Pyrrhocoridae). I. Neo-XY in Dysdercus Albofasciatus Berg 1878, a New Sex Chromosome Determining System in Heteroptera (1999)
    Springer
    Chromosome research 7 (1999), S. 503-508 
    Details
    ISSN: 1573-6849
    Keywords: Dysdercus albofasciatus ; Heteroptera ; holokinetic chromosomes ; neo-XY ; Pyrrhocoridae
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract The genus Dysdercus Guérin Méneville 1831 represents the only taxon within the family Pyrrhocoridae in the New World. Based on morphological features, it has been suggested that American species derived from immigrants from the Old World, most probably from the Ethiopian Region. So far, 10 species from Dysdercus, including six species from the Old World and four species from the Neotropical Region have been cytogenetically analyzed. As is characteristic of Heteroptera, they possess holokinetic chromosomes and a prereductional type of meiosis. While the X1X20 sex chromosome system has been reported in all cytologically analyzed species of Dysdercus from the Old World, the system X0 has been found in all but one species from the New World, regardless of the number of autosomes in the complement. In the present study the male meiosis of D. Albofasciatus Berg 1878 was studied in specimens from four different populations from Argentina. The diploid chromosome number was found to be 2n = 10 + neo-XY. The neo-X shows at each subterminal region a positively heteropycnotic and DAPI-bright segment which corresponds to the ancestral X-chromosome. The origin of this neo-XY system involved, most probably, a subterminal insertion of the ancestral X chromosome in an autosome, followed by a large inversion, which included part of the original X chromosome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1009262210338
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