Mosaic upd(14)pat in a patient with mild features of Kagami-Ogata syndrome.
Marte G HaugAtle BrendehaugGunnar HougeMasayo KagamiTsutomu OgataPublished 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.