Whole Exome Sequencing Facilitated the Identification of a Mosaic Small Supernumerary Marker Chromosome (sSMC)

Small supernumerary marker chromosomes (sSMCs) are a group of rare chromosomal anomalies, which pose challenges in the clinical practice of prenatal diagnosis and genetic counseling. This study enrolled an extended family with an underage male patient displaying infantile seizures, intellectual disa...

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Detalles Bibliográficos
Autores principales: Xing, Huan-xia, Li, Peng-bin, Cui, Li-min, Jiang, Jian-ye, Hu, Ning-ning, Zhang, Xiao-bin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8272673/
https://www.ncbi.nlm.nih.gov/pubmed/34307659
http://dx.doi.org/10.1155/2021/6258527

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