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

Abstract 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 o...

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Bibliographic Details
Main Authors: Xiaofei Cheng, Qifang Yang, Jun Liu, Juan Ye, Huiying Xiao, Gaimei Zhang, Yuanyuan Pan, Xia Li, Ruifeng Hao, Yinfeng Li
Format: Article
Language:English
Published: BMC 2019-04-01
Series:Molecular Cytogenetics
Subjects:
Online Access:http://link.springer.com/article/10.1186/s13039-019-0427-3