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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

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

Haug Marte G MG   Brendehaug Atle A   Houge Gunnar G   Kagami Masayo M   Ogata Tsutomu T  

Clinical case reports 20171128 1


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. ...[more]

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