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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...
Autores principales: | Hu, Yu-an, Cui, Yingxia, Fan, Xiaobo, WU, Qiuyue, Li, Weiwei, Wang, Weiping |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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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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