Mosaic upd(14)pat in a patient with mild features of Kagami–Ogata syndrome. Issue 1 (28th November 2017)

• Record Type: Journal Article
• Authors: Haug, Marte G.; Brendehaug, Atle; Houge, Gunnar; Kagami, Masayo; Ogata, Tsutomu
• Is Part Of: Clinical case reports. Volume 6:Issue 1(2018)
• Page Start: 91
• Page End: 95
• Publication Date: 2017-11-28
• Subjects: Kagami–Ogata syndrome -- mild phenotype -- mosaicism -- upd(14)pat; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.1300
• Languages: English
• ISSNs: 2050-0904

Abstract

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. 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.