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

ABSTRACT: 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.

SUBMITTER: Haug MG 

PROVIDER: S-EPMC5771875 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature