Open AccessMosaic upd(14)pat in a patient with mild features of Kagami–Ogata syndrome
Author(s) -
Haug Marte G.,
Brendehaug Atle,
Houge Gunnar,
Kagami Masayo,
Ogata Tsutomu
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1300
Subject(s) - mosaic , medicine , uniparental disomy , pediatrics , karyotype , genetics , chromosome , biology , history , archaeology , gene
Key Clinical Message 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.