一名患有轻度加贺美-绪方综合征特征的患者出现了14号染色体单亲二倍体镶嵌现象。
Mosaic upd(14)pat in a patient with mild features of Kagami-Ogata syndrome.
作者信息
Haug Marte G, Brendehaug Atle, Houge Gunnar, Kagami Masayo, Ogata Tsutomu
机构信息
Department of Medical Genetics St Olav's Hospital Trondheim Norway.
Department of Medical Genetics Haukeland University Hospital Bergen Norway.
出版信息
Clin Case Rep. 2017 Nov 28;6(1):91-95. doi: 10.1002/ccr3.1300. eCollection 2018 Jan.
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.
摘要
我们报告了一名患有轻度加贺美-绪方综合征（KOS）临床特征和嵌合型父源单亲二体14（upd(14)pat）的挪威女孩。据我们所知，这是第一份描述KOS嵌合型患者的报告。这些结果表明，对于具有印记障碍轻度特征的患者，应检查其嵌合型单亲二体情况。
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