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Frühgeborenes mit auffälligem Phänotyp

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Pädiatrie Aims and scope

Ein weibliches Frühgeborenes der 31. Schwangerschaftswoche zeigt auffällige Veränderungen wie einen glockenförmigen Thorax, ein ausladendes Abdomen und weitere Dysmorphiezeichen. Die humangenetische Untersuchung ergab eine paternale uniparentale Disomie 14.

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Literatur

  1. Irving MD, Buiting K, Kanber D et al. Segmental paternal uniparental disomy [patUPD] of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14. Am J Med Genet 2010; 152A: 1942–50

    Article  CAS  PubMed  Google Scholar 

  2. Bernhard Horsthemke. Imprintingerkrankungen beim Menschen. Elterliches Tauziehen im Genom. BIOspektrum 06.08.

  3. Chu C, Schwartz S, McPherson E. Paternal uniparental isodisomy for chromosome 14 in a patient with a normal 46,XY karyotype. Am J Med Genet A. 2004; 127A(2): 167–71

    Article  PubMed  Google Scholar 

  4. Kurosawa K, Sasaki H, Sato Y, Yamanaka M, Shimizu M, Ito Y, Okuyama T, Matsuo M, Imaizumi K, Kuroki Y, Nishimura G. Paternal UPD 14 is responsible for a distinctive malformation complex. Am J Med Genet 2002; 110: 268–72

    Article  PubMed  Google Scholar 

  5. Wang J-CC, Passage MB, Yen PH, et al. Uniparentale heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier. Am J Hum Genet 1991; 48: 1069–74

    CAS  PubMed  PubMed Central  Google Scholar 

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Authors and Affiliations

  1. Abteilung Neonatologie, Klinik und Poliklinik für Kinder und Jugendliche, Universitätsklinikum Leipzig AöR, Liebigstr. 20a, Haus 6, 04103, Leipzig, Deutschland

    Silke Schilling

  2. http://www.springermedizin.de

    Corinna Gebauer, Matthias Knüpfer, Ferdinand Pulzer, Annett Bläser, Diana Mitter, Wolfram Heinritz, Walter Pernice, Franz Wolfgang Hirsch & Ulrich Thome

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  1. Silke Schilling
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  2. Corinna Gebauer
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  3. Matthias Knüpfer
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  4. Ferdinand Pulzer
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  5. Annett Bläser
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  6. Diana Mitter
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  7. Wolfram Heinritz
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  8. Walter Pernice
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  9. Franz Wolfgang Hirsch
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  10. Ulrich Thome
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Interessenkonflikt

Die Autoren erklären, dass bei der Erstellung des Beitrags kein Interessenkonflikt vorlag.

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Schilling, S., Gebauer, C., Knüpfer, M. et al. Frühgeborenes mit auffälligem Phänotyp. Pädiatrie 26, 106–108 (2014). https://doi.org/10.1007/s15014-014-0347-y

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  • DOI: https://doi.org/10.1007/s15014-014-0347-y

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