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  • 11
    Electronic Resource
    Electronic Resource
    Variations in karyotypes of normal premature babies, new-born babies and infants (1971)
    Springer
    Human genetics 〈Berlin〉 14 (1971), S. 33-43 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung 4754 Lymphocytenmetaphasen von 36 männlichen und weiblichen Frühgeborenen, Neugeborenen und Kleinkindern wurden nach dem Vorkommen von numerischen und strukturellen Aberrationen, von Assoziationen und sichtbaren Satelliten der akrozentrischen Chromosomen untersucht, wobei wir die Zellkulturen, die wir nach einer Mikromethode nach Hirschhorn durchführten, nach 48 und 72 Std Kulturzeit abbrachen. Aneuploidie. Wir beobachteten in 1,87% sämtlicher untersuchter Zellen eine abnorme Chromosomenzahl. Bei den einzelnen Individuen kamen aneuploide Kerne zwischen 0 und 5% vor, ohne daß ein Unterschied zwischen den Altersgruppen, den Geschlechtern oder den Kulturzeiten bestand. Strukturelle Abnormalitäten. Sie traten in 4,75% aller untersuchten Mitosen, bei den einzelnen Probanden zwischen 1 und 8% auf, wobei Gaps am häufigsten auf den Chromosomen der gruppe D, Brüche auf denen der Gruppe A gefunden wurden. Die Altersgruppen, die Geschlechter, die Präparate der verschiedenen Kulturzeiten und Serien unterschieden sich im Vorkommen von Strukturabnomalitäten nicht voneinander. Assoziationen der akrozentrischen Chromosomen. Ihr Vorkommen ist abhängig von: Individuum, Altersgruppe, Kulturzeit. In einer Altersgruppe für eine bestimmte Kulturzeit charakterisiert ihre Häufigkeit ein Individuum. Satelliten. Sowohl die Häufigkeit der D-Satelliten wie auch die der G-Satelliten ist für ein Individuum charakteristisch. Ihr Vorkommen bei einem Probanden war bei beiden Kulturzeiten gleich.
    Notes: Summary 4754 lymphocyte metaphases of 36 male and female premature babies, new-born babies and infants were analyzed for the occurrence of numeric and structural chromosome aberrations, of associations and visible satellites of the acrocentric chromosomes. The cell cultures were done after a micro-method according to Hirschhorn and were interrupted after 48 and 72 hrs of culturing. Aneuploidy. 1.87% of all the cells analyzed showed an abnormal number of chromosomes. In the single individual aneuploidic nuclei occurred between 0 and 5% without there being a difference in group of age, sex or time in culture. Structural Abnormalities. In 4.75% of the total number of mitoses analyzed, and between 1to 8% in the single individual, structural abnormalities were recorded. Gaps were found most frequently in chromosomes of group D, breaks in those of group A. The difference between age-groups,sexes, culturing time and culture series has no significance for the occurrence of structural abnormalities. Associations of Acrocentric Chromosomes. Their occurrence depends on the individual, the age-group and the time in culture. Within one age-group with a certain culturing time, an individual is characterized by their occurrence. Satellites. The frequency of D-satellites as well as of G-satellites is characteristic of an individual. Their occurrence with one subject remained the same for both culture periods.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00273029
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  • 12
    Electronic Resource
    Electronic Resource
    Silver staining of nucleolus organizer regions during human spermatogenesis (1983)
    Springer
    Human genetics 〈Berlin〉 64 (1983), S. 363-370 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The sizes and staining intensities of the nucleolus organizer regions (NORs) in human spermatogenesis were studied qualitatively and quantitatively with the silver (Ag)-staining technique. The Ag-stainability of the NORs is a measure of the transcriptional activity of the ribosomal RNA genes. Ag-stained NORs are present during the whole period of meiotic prophase up to pachytene and totally absent in the two meiotic metaphases. In the early spermatids the Ag-stainability of the NORs reappears and persists up to the beginning of the elongation phase of the nuclei. This pattern of NOR-activity during spermatogenesis is common for all vertebrates. However, in human spermatogenesis the absolute sizes of the NORs in the pre- and postmeiotic stages as well as the interphase arrangement of the postmeiotically reactivated NORs show characteristic properties not found in any other species. The cytochemistry of the argentophilic material, the significance of the synthesis of ribosomal RNA in spermatogenesis, and the characteristic arrangement of the Ag-stained NORs in the spermatids are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00292368
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  • 13
    Electronic Resource
    Electronic Resource
    Genetic analysis of familial erythrophagocytic lymphohistiocytosis (1984)
    Springer
    European journal of pediatrics 142 (1984), S. 248-252 
    Details
    ISSN: 1432-1076
    Keywords: Familial erythrophagocytic lymphohistiocytosis ; Genetic analysis ; Consanguinity rate ; Autosomal recessive inheritance
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A family with two patients suffering from familial erythrophagocytic lymphohistiocytosis (FEL) is described. Reports on FEL found in the literature were collected and the family trees reconstructed. Genetic analysis of this material indicated that FEL is an autosomal recessive hereditary disease. This conclusion is supported by the following evidence: considerably increased consanguinity rate; complete concordance in monozygotic twins; more frequent occurrence in inbred populations and in cousins; limitation of cases to one generation, and results of segregation analysis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00540245
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  • 14
    Electronic Resource
    Electronic Resource
    Chromosomes and human neoplasms (1976)
    Springer
    European journal of pediatrics 123 (1976), S. 1-13 
    Details
    ISSN: 1432-1076
    Keywords: Cancer etiology ; Tumor cytogenetics ; Chromosome instability syndromes ; Chromosomal syndromes ; Leukemias ; Chromosome investigations in leukemia ; Y chromosome ; Individuals at high risk of cancer ; Acquired chromosome damage ; Chromosome banding techniques
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Numerical and structural chromosome aberrations are frequently found in neoplastic cells. As demonstrated by the new chromosome banding techniques these aberrations are not random, but tend to show a specific occurrence. A model example is the leukemias where many cytogenetical investigations have been done to date. In leukemia chromosome analysis serves the following purposes: to identify a neoplastic process, to confirm and strengthen the hematological diagnosis, for the early diagnosis of transformation from a chronic leukemia into its blastic phase and for following up the clonal evolution of a leukemic cell line. In the discussion of chromosomes and neoplasms it must be mentioned that individuals demonstrating chromosomal instability and some trisomic patients show a greater tendency toward the development of a malignancy. Malignancy is primarily a cellular phenomenon caused by a disturbance in cellular regulation, whose fine events are not known. Therefore the exact role of the chromosomes in neoplastic processes cannot be stated. From experimental investigations it appears that the affected chromosomes carry cell growth regulating factors and also that a specific aberration is the result of the action of a specific agent.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00497675
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  • 15
    Electronic Resource
    Electronic Resource
    Familiäre Tumorkrankheiten. Erste Ergebnisse einer Erhebung über ihr Vorkommen in Basel (1985)
    Springer
    Sozial- und Präventivmedizin 30 (1985), S. 28-32 
    Details
    ISSN: 1420-911X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Résumé Les premiers résultats d'une étude systématique bâloise sur la parenté de plus de 600 malades cancéreux permettent de déduire, que parmi les tumeurs malignes de tous les organes, il existe certaines formes à l'origine desquelles la prédisposition joue un grand rôle. Ceci est illustré par les examples du cancer du sein, du cancer colorectal, du cancer de l'estomac et des maladies lymphoprolifératives. La recherche de la prédisposition à des maladies cancéreuses présente un intérêt pratique en permettant de protéger les personnes à risque des suites graves d'une maladie cancéreuse. D'autre part, elle présente un intérêt scientifique, car la caractérisation des gènes contribuant à la formation de certaines tumeurs permet des observations fondamentales sur la pathogénèse de ces maladies peuvent être donnés.
    Abstract: Summary The initial results of a systematic study conducted in Basel on the existence of relatives with cancer in the families of more than 600 tumour patients indicate that neoplasm of all organs have forms in whose etiology genetic predisposition is an important factor. This is illustrated by the examples of mammary carcinoma, colorectal carcinoma, gastric carcinoma and lymphoproliferative diseases. Research into genetic predisposition to cancer is of practical value in order to protect persons at risk from the serious consequences of malignant tumors, and also of scientific interest because the characterisation of certain tumours can provide a fundamental insight into the pathogenesis of these diseases.
    Notes: Zusammenfassung Erste Ergebnisse einer in Basel systematisch durchgeführten Studie über das Vorkommen von Verwandten mit Tumorkrankheiten in Familien von über 600 Tumorpatienten lassen schliessen, dass es von den bösartigen Neubildungen aller Organe Formen gibt, bei deren Entstehung die Veranlagung eine wichtige Rolle spielt. Dies wird am Beispiel des Mammakarzinoms, der Kolorektalkarzinome, des Magenkarzinoms und von lymphoproliferativen Erkrankungen illustriert. Die Erforschung der Veranlagung für Tumorkrankheiten ist von praktischer Bedeutung, um Risikopersonen von den schweren Folgen einer Tumorkrankheit schützen zu können, und von wissenschaftlichem Interesse, da durch die Charakterisierung der Gene, die zur Entstehung bestimmter Tumoren beitragen, grundlegende Einblicke in die Pathogenese dieser Leiden gewonnen werden können.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02075725
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