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

Marte G Haug; Atle Brendehaug; Gunnar Houge; Masayo Kagami; Tsutomu Ogata

doi:10.1002/ccr3.1300

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

Clin Case Rep. 2017 Nov 28;6(1):91-95. doi: 10.1002/ccr3.1300. eCollection 2018 Jan.

Authors

Marte G Haug¹, Atle Brendehaug², Gunnar Houge², Masayo Kagami³, Tsutomu Ogata^{3

4}

Affiliations

¹ Department of Medical Genetics St Olav's Hospital Trondheim Norway.
² Department of Medical Genetics Haukeland University Hospital Bergen Norway.
³ Department of Molecular Endocrinology National Research Institute for Child Health and Development Tokyo Japan.
⁴ Department of Pediatrics Hamamatsu University School of Medicine Hamamatsu Japan.

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.

Keywords: Kagami–Ogata syndrome; mild phenotype; mosaicism; upd(14)pat.

Publication types

Case Reports