A Male Case of Kagami-Ogata Syndrome Caused by Paternal Unipaternal Disomy 14 as a Result of a Robertsonian Translocation

A Male Case of Kagami-Ogata Syndrome Caused by Paternal Unipaternal Disomy 14 as a Result of a Robertsonian Translocation

Kagami–Ogata syndrome (KOS) is a rare imprinting disorder characterized by skeletal abnormalities, dysmorphic facial features, growth retardation and developmental delay. The genetic etiology of KOS includes paternal uniparental disomy 14 [upd(14)pat], epimutations and microdeletions affecting the m...

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Bibliographic Details
Main Authors: Xiaoxue Wang, Hui Pang, Birju A. Shah, Hongcang Gu, Lijun Zhang, Hua Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-03-01
Series:Frontiers in Pediatrics
Subjects:
uniparental disomy
Kagami–Ogata syndrome
imprinting disorders
Robertsonian translocation
heterodisomy
Online Access:https://www.frontiersin.org/article/10.3389/fped.2020.00088/full

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https://www.frontiersin.org/article/10.3389/fped.2020.00088/full

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