Ontology highlight
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 on 1q43 that includes only CHRM3, which was detected by next generation sequencing (NGS). The patient presented with intellectual disability, developmental delay, autistic behavior, limited or no speech, social withdrawal, self-injurious, feeding difficulties, strabismus, short stature, hand anomalie, and no seizures, anxiety, or mood swings, and clinodactyly.Conclusions
We propose that CHRM3 is the critical gene responsible for the common characteristics in the cases with 1q43 duplication and deletion.
SUBMITTER: Cheng X
PROVIDER: S-EPMC6472087 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Cheng Xiaofei X Yang Qifang Q Liu Jun J Ye Juan J Xiao Huiying H Zhang Gaimei G Pan Yuanyuan Y Li Xia X Hao Ruifeng R Li Yinfeng Y
Molecular cytogenetics 20190417
<h4>Background</h4>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.<h4>Case presentation</h4>We report on a patient with intellectual disability and a 763.3 Kb duplication on 1q43 that includes only CHRM3, which was detected by next generation sequencing (NGS). The patient presented with intellectual disability, developmental delay, autistic behavior, limited or no ...[more]