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Prenatal diagnosis and genetic counseling in a fetus associated with risk of Angelman syndrome with a small supernumerary marker chromosome derived from chromosome 22

BACKGROUND: Angelman syndrome (AS) is a neurodevelopmental disorder. AS patients concomitant with sSMC are rather rare events. It will provide more useful and proper information for genetic counseling to identify the sSMC origin. CASE PRESENTATION: A 27-year-old woman was referred for genetic counse...

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Detalles Bibliográficos
Autores principales: Hu, Yu-an, Cui, Yingxia, Fan, Xiaobo, WU, Qiuyue, Li, Weiwei, Wang, Weiping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4855799/
https://www.ncbi.nlm.nih.gov/pubmed/27148405
http://dx.doi.org/10.1186/s13039-016-0248-6

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