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Articles Published Processes
9/2/2022 6:17:49 AM | Browse: 252 | Download: 698
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Received |
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2022-03-25 09:44 |
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Peer-Review Started |
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2022-03-25 09:45 |
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To Make the First Decision |
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Return for Revision |
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2022-05-30 02:51 |
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Revised |
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2022-06-08 06:11 |
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Second Decision |
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2022-07-21 03:02 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2022-07-21 20:14 |
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Articles in Press |
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2022-07-21 20:14 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2022-07-31 04:33 |
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Typeset the Manuscript |
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2022-08-24 00:53 |
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Publish the Manuscript Online |
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2022-09-02 06:17 |
| ISSN |
2307-8960 (online) |
| 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: http://creativecommons.org/licenses/by-nc/4.0/ |
| Copyright |
©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved. |
| Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Genetics & Heredity |
| Manuscript Type |
Case Report |
| Article Title |
Early-onset ophthalmoplegia, cervical dyskinesia, and lower extremity weakness due to partial deletion of chromosome16: A case report
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Min Xu, Jiao Jiang, Yan He, Wei-Yue Gu and Bo Jin |
| ORCID |
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| Funding Agency and Grant Number |
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| Corresponding Author |
Bo Jin, MD, Chief Doctor, Department of Neurology, Children’s Hospital of Nanjing Medical University, No. 72 Guangzhou Road, Gulou District, Nanjing, China, Nanjing 210008, Jiangsu Province, China. 13182852157@163.com |
| Key Words |
Cervical dyskinesia; Copy number variation; Lower limbs weakness; Ophthalmoplegia; Whole-exome sequencing; Case report |
| Core Tip |
At present, little is known about the associated phenotypes of copy number variations (CNV) in the short arm of chromosome16. The most remarkable CNV 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 (NDD). However, the patient only displayed features of progressive total ophthalmoplegia, cervical dyskinesia and weakness in lower limbs without NDD. |
| Publish Date |
2022-09-02 06:17 |
| Citation |
Xu M, Jiang J, He Y, Gu WY, Jin B. Early-onset ophthalmoplegia, cervical dyskinesia, and lower extremity weakness due to partial deletion of chromosome 16: A case report. World J Clin Cases 2022; 10(26): 9332-9339 |
| URL |
https://www.wjgnet.com/2307-8960/full/v10/i26/9332.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v10.i26.9332 |
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