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  • 1
    Electronic Resource
    Electronic Resource
    [s.l.] : Macmillan Magazines Ltd.
    Nature 390 (1997), S. 569-569 
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Skuse et al. report that females with Turner's syndrome who have retained the paternal X chromosome (Xp) tend to achieve better cognition and social adjustment scores than those with the maternal X (Xm). As sex-chromosome mosaicism is frequent in Turner's syndrome, ...
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Ethik in der Medizin 10 (1998), S. 128-137 
    ISSN: 1437-1618
    Keywords: Key words: Genetics ; Population screening ; DNA chip ; Preventive medicine ; Eugenics ; Schlüsselwörter: Genetik ; Populationsscreening ; DNA-Chip ; Präventivmedizin ; Eugenik
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Philosophy
    Description / Table of Contents: Zusammenfassung. Durch die Entwicklung der molekulargenetischen Diagnostik ist in den vergangenen Jahren nicht nur der individuelle Nachweis zahlreicher genetisch bedingter Krankheiten und Krankheitsdispositionen möglich geworden, sondern darüber hinaus auch die Feststellung der verdeckten Anlageträgerschaft gesunder Probanden für rezessive Erbleiden. Die sich hieraus ergebende, unter ethischen Aspekten umstrittene Möglichkeit eines genetischen Populationsscreenings war bislang methodenbedingt auf wenige, meist seltene Leiden beschränkt. Die neue Technologie des „DNA-Chips“ eröffnet durch die Synthese von Computertechnologie und Molekulargenetik die technische Möglichkeit des Massenscreenings auf eine große Zahl, wie immer definierter, genetischer Defektanlagen für Erbleiden, aber auch genetisch mitbedingte Volkskrankheiten. Damit stellt der DNA-Chip das Handwerkszeug sowohl für eine verbesserte Präventivmedizin als auch für neue Formen von genetischer Diskriminierung bis hin zur Eugenik dar. Es müssen daher dringend ethische Normen und rechtliche Rahmenbedingungen für den unmittelbar bevorstehenden Einsatz des DNA-Chips in der medizinischen Diagnostik erarbeitet werden.
    Notes: Abstract. Definition of the problem: The development of molecular genetics has provided tools not only for the diagnosis of genetic diseases and disease dispositions in affected individuals, but also for the detection of healthy carriers of recessive hereditary traits. The resulting, ethically controversial option of genetic population screening used to be restricted to a small number of rather rare diseases by methodological limitations which are now about to be overcome.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Mosaic trisomy of chromosome 7 is known to occur in a variety of non-neoplastic hyperproliferative disorders. In long-term cell cultures established from rheumatic synovium with mosaic trisomy 7, we observed a continuous increase in the proportion of cells with trisomy 7 to over 50% by the 10th in vitro passage. Simultaneous in situ hybridization with a repetitive chromosome-7-specific DNA probe and fluorescent Ki-67 labelling showed a strong correlation between trisomy 7 and an elevated proliferation index in cultured rheumatic synovial cells. Moreover, we observed a fraction of rapidly proliferating cells with up to eight copies of chromosome 7 as the sole cytogenetic change. Frequent somatic pairing of centromeres of two chromosomes 7 in interphase nuclei suggests either atypical non-disjunction with a persisting centromere or selective endoreduplication of chromosome 7.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Cytogenetic analysis of a human embryonal rhabdomyosarcoma revealed a near-diploid karyotype with structural chromosome aberrations not involving the typical rearrangements of rhabdomyosarcomas, plus a large number of double minutes. Comparative genomic hybridization revealed a previously undescribed site of DNA amplification on the short arm of chromosome 1 (band 1p32-33).
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1573-6849
    Keywords: FISH ; immunophenotyping ; smear preparations
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Type of Medium: Electronic Resource
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