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Mosaic upd(14)pat in a patient with mild features of Kagami-Ogata syndrome.

Marte G HaugAtle BrendehaugGunnar HougeMasayo KagamiTsutomu Ogata
Published in: Clinical case reports (2017)
We report a Norwegian girl with mild clinical features of Kagami-Ogata syndrome (KOS) and mosaic upd(14)pat. To our knowledge, this is the first report describing a mosaic patient with KOS. These results imply that mosaic uniparental disomy should be examined in patients with mild features of imprinted disorders.
Keyphrases
  • case report
  • healthcare
  • liquid chromatography
  • solid phase extraction