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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Detalles Bibliográficos
Autores principales: Li, Fenxia, Liu, Siping, Jia, Bei, Wu, Ruifeng, Chang, Qingxian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8566877/
https://www.ncbi.nlm.nih.gov/pubmed/34746047
http://dx.doi.org/10.3389/fped.2021.691761

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8566877/
https://www.ncbi.nlm.nih.gov/pubmed/34746047
http://dx.doi.org/10.3389/fped.2021.691761

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