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  • 1985-1989  (3)
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  • 1
    Digitale Medien
    Digitale Medien
    The significance of pericentric inversions of chromosome 2 (1986)
    Springer
    Human genetics 〈Berlin〉 72 (1986), S. 32-36 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Summary Thirteen new cases of a pericentric inversion 2 collected from different laboratories are reported. In addition 41 cases of a pericentric inversion 2 were reviewed from the literature. The pooled data were analysed using Weinberg's proband method to evaluate the risk of a carrier for either children with congenital anomalies or reproductive wastage. In the “corrected” sample of 166 lifeborn offspring of carriers of a pericentric inversion 2 there were five who showed phenotypic anomalies and two died a few hours after delivery. The reported anomalies are heterogeneous and probably reflect the basic risk of any couple for abnormal lifeborn offspring. There has been no observation of a lifeborn who inherited an unbalanced recombination of a parental pericentric inversion 2. A carrier of a pericentric inversion 2 obviously has an increased risk for reproductive wastage. This is indicated by (1) an increase of the rate of spontaneous abortions and (2) an increase of the rate of index patients ascertained because of previous miscarriages. The risk of a carrier of a pericentric inversion 2 for a spontaneous abortion or a stillbirth may be about twice the basic risk of the general population.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00278814
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 2
    Digitale Medien
    Digitale Medien
    A causal relationship between chromosomal rearrangements and the genesis of salivary gland pleomorphic adenomas (1988)
    Springer
    European archives of oto-rhino-laryngology and head & neck 245 (1988), S. 244-249 
    Details
    ISSN: 1434-4726
    Schlagwort(e): Pleomorphic adenomas ; Cytogenetic investigation ; Chromosomes
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Summary The results of chromosome analyses performed on 50 pleomorphic salivary gland adenomas in Germany are summarized herein and compared with those obtained on 100 adenomas studied in Sweden. In both series, characteristic or even specific structural chromosomal rearrangements involving either chromosome 8 or 12 were found that allowed the cytogeneticist to distinguish between subgroups. However, the significantly higher percentage of tumors with chromosome abnormalities in the adenomas examined in Germany is particularly noteworthy. In the near future, cytogenetic investigations together with molecular methods will allow investigators to describe basic mechanisms for the development of pleomorphic adenomas in terms of oncogenetics.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00463936
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  • 3
    Digitale Medien
    Digitale Medien
    Structural rearrangements of chromosome Nr 8 involving 8q12—a primary event in pleomorphic ademona of the parotid gland (1987)
    Springer
    Genetica 72 (1987), S. 85-92 
    Details
    ISSN: 1573-6857
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie
    Notizen: Abstract Nine pleomorphic adenomas of the human parotid gland were investigated. Within this series the group of cases having clonal aberrations of chromosome Nr 8 predominates. The occurrence of cases with trisomy-8 and cases with structural rearrangements involving a breakpoint in 8q11-8q13 allows a further subdivision of this group of tumors. Our special interest in this paper is devoted to the latter group. the hypothesis is proposed that in these cases the chromosomal rearrangement is the primary event in tumorigenesis, leading to activation of a so far unknown oncogene located most likely at 8q12. The translocations to different recipient chromosomes may serve as sign posts to transcriptionally active chromosomal domains in the salivary gland.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00123166
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