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Tvístæða litnings nr. 11 frá föður hjá sjúk­lingi með Beckwith-Wiedemann heilkenni. Fyrsta greining á Íslandi : sjúkratilfelli

Authors
Journal
Læknablaðið
0023-7213
Publisher
Laeknabladid/The Icelandic Medical Journal
Publication Date
Keywords
  • ErfðAfræðI
  • Litningagallar
Disciplines
  • Biology
  • Medicine

Abstract

Beckwith-Wiedemann syndrome (BWS) is a generalized overgrowth condition as well as regional and organ overgrowth in newborn children. It includes an increased risk of certain embryonal tumours. The aetiology of BWS is complex as different genetic and epigenetic alterations at chromosome region 11p15.5 may occur. We report the first case of paternal uniparental disomy in Beckwith-Wiedemann syndrome in Iceland. The diagnosis of Beckwith-Wiedemann syndrome is important as the risk of malignant tumors makes it mandatory that the children are followed for several years with regular investigations to detect the tumors as early as possible.

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