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

Internet

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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