Browsing Department of Clinical Medicine by Author "Houge, Gunnar"

Now showing items 1-2 of 2

    • Evidence for anticipation in Beckwith-Wiedemann syndrome 

      Berland, Siren; Appelbäck, Mia Sanby; Bruland, Ove; Beygo, Jasmin; Buiting, Karin; Mackay, Deborah J.G.; Temple, I. Karen; Houge, Gunnar (Journal article; Peer reviewed, 2013)
      Classical Beckwith–Wiedemann syndrome (BWS) was diagnosed in two sisters and their male cousin. The children’s mothers and a third sister were tall statured (178, 185 and 187 cm) and one had mild BWS features as a child. ...

    • Mosaicism for combined tetrasomy of chromosomes 8 and 18 in a dysmorphic child: A result of failed tetraploidy correction? 

      Houge, Gunnar; Lybæk, Helle; Gulati, Sasha (Peer reviewed; Journal article, 2009-05-18)
      Background: Mosaic whole-chromosome tetrasomy has not previously been described as a cause of fetal malformations. Case presentation: In a markedly dysmorphic child with heart malformations and developmental delay, CGH ...