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Cheng X, Yang Q, Liu J, et al. Constitutional 763.3 Kb chromosome 1q43 duplication encompassing only CHRM3 gene identified by next generation sequencing (NGS) in a child with intellectual disability. Mol Cytogenet. 2019;12:16doi: 10.1186/s13039-019-0427-3.
Cheng, X., Yang, Q., Liu, J., Ye, J., Xiao, H., Zhang, G., Pan, Y., Li, X., Hao, R., & Li, Y. (2019). Constitutional 763.3 Kb chromosome 1q43 duplication encompassing only CHRM3 gene identified by next generation sequencing (NGS) in a child with intellectual disability. Molecular cytogenetics, 1216. https://doi.org/10.1186/s13039-019-0427-3
Cheng, Xiaofei, et al. "Constitutional 763.3 Kb chromosome 1q43 duplication encompassing only CHRM3 gene identified by next generation sequencing (NGS) in a child with intellectual disability." Molecular cytogenetics vol. 12 (2019): 16. doi: https://doi.org/10.1186/s13039-019-0427-3
Cheng X, Yang Q, Liu J, Ye J, Xiao H, Zhang G, Pan Y, Li X, Hao R, Li Y. Constitutional 763.3 Kb chromosome 1q43 duplication encompassing only CHRM3 gene identified by next generation sequencing (NGS) in a child with intellectual disability. Mol Cytogenet. 2019 Apr 17;12:16. doi: 10.1186/s13039-019-0427-3. eCollection 2019. PMID: 31019551; PMCID: PMC6472087.
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Mol Cytogenet. 2019 Apr 17;12:16. doi: 10.1186/s13039-019-0427-3. eCollection 2019.

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

Molecular cytogenetics

Xiaofei Cheng, Qifang Yang, Jun Liu, Juan Ye, Huiying Xiao, Gaimei Zhang, Yuanyuan Pan, Xia Li, Ruifeng Hao, Yinfeng Li

Affiliations

  1. 1Department of Obstetrics and Gynecology, the First Hospital of Huhhot City, Inner Mongolia, China.
  2. 2Department of Radiology, the First Hospital of Huhhot City, Inner Mongolia, China.

PMID: 31019551 PMCID: PMC6472087 DOI: 10.1186/s13039-019-0427-3

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.

Keywords: 1q43 duplication; CHRM3; Intellectual disability

Conflict of interest statement

Not applicable.Written informed consent was obtained from the patient’s parents for publication of this case report and any accompanying images.The authors declare that they have no competing interest

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