Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Sep 16, 2022; 10(26): 9332-9339
Published online Sep 16, 2022. doi: 10.12998/wjcc.v10.i26.9332
Early-onset ophthalmoplegia, cervical dyskinesia, and lower extremity weakness due to partial deletion of chromosome 16: A case report
Min Xu, Jiao Jiang, Yan He, Wei-Yue Gu, Bo Jin
Min Xu, Jiao Jiang, Yan He, Bo Jin, Department of Neurology, Children’s Hospital of Nanjing Medical University, Nanjing 210008, Jiangsu Province, China
Wei-Yue Gu, Chigene (Beijing), Translational Medical Research Center Co. Ltd, Beijing 101111, China
Author contributions: Xu M and Jin B designed the research study; Jiang J and He Y performed the research; Jiang J and Gu WY contributed new reagents and analytic tools; Xu M and He Y analyzed the data and wrote the manuscript; All authors have read and approved the final manuscript.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
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:
Corresponding author: Bo Jin, MD, Chief Doctor, Department of Neurology, Children’s Hospital of Nanjing Medical University, No. 72 Guangzhou Road, Gulou District, Nanjing 210008, Jiangsu Province, China.
Received: March 25, 2022
Peer-review started: March 25, 2022
First decision: May 30, 2022
Revised: June 8, 2022
Accepted: July 21, 2022
Article in press: July 21, 2022
Published online: September 16, 2022
Core Tip

Core Tip: At present, little is known about the associated phenotypes of copy number variations in the short arm of chromosome 16. The most remarkable copy number variations is 16p13.11 microdeletion/microduplication. The main clinical features of this syndrome are a series of neurological abnormalities such as mental retardation, autism, schizophrenia, epilepsy, and attention deficit hyperactivity disorder. We identified a de novo 7.23 Mb deletion, covering 16p13.2p12.3. 16p13.11 was included in the deleted region, which is the recurrent distinct region associated with neurodevelopmental disorder. However, the patient only displayed features of progressive total ophthalmoplegia, cervical dyskinesia, and weakness in the lower limbs without neurodevelopmental disorder.