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A Case of Trisomy 13 Mosaicism With Aortic Root Dilatation

We present a 6-year-old female child, with prenatal diagnosis of trisomy 13 mosaicism and nondisjunction, a bicuspid aortic valve, and severe aortic root dilatation. This patient is only the third reported case of aortic dilatation in the setting of trisomy 13 mosaicism. (Level of Difficulty: Interm...

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Detalles Bibliográficos
Autores principales: Wang, Sarah, Liao, Peter, Yang, Song-Gui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9350891/
https://www.ncbi.nlm.nih.gov/pubmed/35935163
http://dx.doi.org/10.1016/j.jaccas.2022.06.010
Descripción
Sumario:We present a 6-year-old female child, with prenatal diagnosis of trisomy 13 mosaicism and nondisjunction, a bicuspid aortic valve, and severe aortic root dilatation. This patient is only the third reported case of aortic dilatation in the setting of trisomy 13 mosaicism. (Level of Difficulty: Intermediate.)