Mosaic trisomy 8 detected by fibroblasts cultured of skin

INTRODUCTION: Mosaic trisomy 8 or "Warkany's Syndrome" is a chromosomopathy with an estimated prevalance of 1:25,000 to 1:50,000, whose clinical presentation has a wide phenotypic variability. CASE DESCRIPTION: Patient aged 14 years old with antecedents of global retardation of develo...

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Detalles Bibliográficos
Autores principales: Giraldo, Gustavo, Gómez, Ana M, Mora, Lina, Suarez-Obando, Fernando, Moreno, Olga
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Universidad del Valle 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4975130/
https://www.ncbi.nlm.nih.gov/pubmed/27546932

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