Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Feb 6, 2023; 11(4): 874-882
Published online Feb 6, 2023. doi: 10.12998/wjcc.v11.i4.874
Identification of 1q21.1 microduplication in a family: A case report
Ting-Ting Huang, Hai-Feng Xu, Shang-Yu Wang, Wen-Xin Lin, Yie-Hen Tung, Kaleem Ullah Khan, Hui-Hui Zhang, Hu Guo, Guo Zheng, Gang Zhang
Ting-Ting Huang, Hai-Feng Xu, Shang-Yu Wang, Wen-Xin Lin, Yie-Hen Tung, Kaleem Ullah Khan, Hu Guo, Guo Zheng, Gang Zhang, Department of Neurology, Children’s Hospital of Nanjing Medical University, Nanjing 210000, Jiangsu Province, China
Hui-Hui Zhang, Nanjing Medical University, Nanjing 210000, Jiangsu Province, China
Hui-Hui Zhang, Nanjing Xiaozhuang University Experimental Primary School, Nanjing 210000, Jiangsu Province, China
Author contributions: Zhang G designed and performed the study; Huang TT, Xu HF, and Wang SY wrote the draft manuscript; Lin WX, Tung YH and Zhang HH collected the data; Khan KU, Guo H and Zheng G carried out language revision; All authors approved the submission of the final manuscript.
Informed consent statement: Written informed consent for publication was obtained from the parents.
Conflict-of-interest statement: All the authors have no financial relationship with any commercial entity with a potential interest in the subject of this manuscript.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Gang Zhang, MD, PhD, Doctor, Department of Neurology, Children’s Hospital of Nanjing Medical University, No. 72 Guangzhou Road, Nanjing 210000, Jiangsu Province, China. zhanggangnjmu@126.com
Received: August 17, 2022
Peer-review started: August 17, 2022
First decision: November 11, 2022
Revised: December 21, 2022
Accepted: January 12, 2023
Article in press: January 12, 2023
Published online: February 6, 2023
Processing time: 172 Days and 17.3 Hours
Core Tip

Core Tip: We reported an 8-mo-old girl with 1q21.1 microduplication syndrome, and review the literature to determine the correlation between 1q21.1 microduplication and its phenotypes. Whole exon sequencing and whole genome low-depth sequencing (Copy number variation -seq) were performed on the patient and her family members. This case shows that whole exon sequencing combined with quantitative polymerase chain reaction can provide an accurate molecular diagnosis in children with 1q21.1 microduplication syndrome, which is important for genetic counseling and early intervention in the patients.