Prenatal Diagnosis of a Mosaic Paternal Uniparental Disomy for Chromosome 14: A Case Report of Kagami-Ogata Syndrome

The Kagami-Ogata syndrome (KOS) is a rare imprinting disorder with a distinct clinical phenotype. In KOS, polyhydramnios is associated with a small bell-shaped thorax and coat-hanger ribs. The genetic etiology of KOS includes paternal uniparental disomy 14 [upd(14)pat], epimutations, and microdeleti...

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Bibliografski detalji
Glavni autori: Fenxia Li (Autor), Siping Liu (Autor), Bei Jia (Autor), Ruifeng Wu (Autor), Qingxian Chang (Autor)
Format: Knjiga
Izdano: Frontiers Media S.A., 2021-10-01T00:00:00Z.
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