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  • 1
    Digitale Medien
    Digitale Medien
    Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families (1999)
    Springer
    European journal of pediatrics 158 (1999), S. 902-905 
    Details
    ISSN: 1432-1076
    Schlagwort(e): Key words Sacral dysgenesis ; Anal stenosis ; Currarino syndrome ; Chromosome
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Most cases of sacral dysgenesis are considered to be sporadic events. We present two families in whom the presence of associated clinical features prompted specific investigation of chromosome 7, leading to the identification of an underlying chromosome 7q deletion causing sacral dysgenesis. All affected individuals had microcephaly and developmental delay. Detailed cytogenetic studies confirmed that all three affected individuals had a deletion of chromosome 7q associated with their sacral dysgenesis, developmental delay and related problems. The three affected patients were studied clinically, radiologically and cytogenetically. Eleven unaffected individuals from the two families were also investigated by genetic studies, specifically evaluating chromosome 7. Conclusion It is important that detailed family history, evaluation of associated malformations and the overall clinical picture be considered in identifying the underlying diagnosis in cases of anal stenosis/sacral agenesis. The cases we present demonstrate the value of detailed chromosome studies in such situations.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/s004310051238
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 2
    Digitale Medien
    Digitale Medien
    Asteroseismology of degenerate stars (1995)
    Springer
    Astrophysics and space science 230 (1995), S. 63-74 
    Details
    ISSN: 1572-946X
    Schlagwort(e): White Dwarfs ; Pulsating Stars ; Nonradial Oscillations
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Physik
    Notizen: Abstract An overview of the observational and theoretical study of white dwarf pulsators is given. Particular attention is drawn to the contributions of South African-based workers.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00658168
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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