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Constitutional 763.3 Kb chromosome 1q43 duplication encompassing only CHRM3 gene identified by next generation sequencing (NGS) in a child with intellectual disability

BACKGROUND: Deletion or duplication on the distal portion of the long arm of chromosome 1 result in complex and highly variable clinical phenotype including. intellectual disability and autism. CASE PRESENTATION: We report on a patient with intellectual disability and a 763.3 Kb duplication on 1q43...

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Detalles Bibliográficos
Autores principales:	Cheng, Xiaofei, Yang, Qifang, Liu, Jun, Ye, Juan, Xiao, Huiying, Zhang, Gaimei, Pan, Yuanyuan, Li, Xia, Hao, Ruifeng, Li, Yinfeng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6472087/ https://www.ncbi.nlm.nih.gov/pubmed/31019551 http://dx.doi.org/10.1186/s13039-019-0427-3

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