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Articles Published Processes
2/6/2023 6:38:44 AM | Browse: 101 | Download: 246
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Received |
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2022-08-17 13:18 |
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Peer-Review Started |
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2022-08-17 13:21 |
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To Make the First Decision |
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Return for Revision |
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2022-11-11 02:10 |
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Revised |
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2022-12-21 10:48 |
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Second Decision |
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2023-01-12 03:08 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Company Editor-in-Chief |
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2023-01-12 08:24 |
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Articles in Press |
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2023-01-12 08:24 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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Typeset the Manuscript |
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2023-01-28 12:49 |
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Publish the Manuscript Online |
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2023-02-06 06:38 |
| 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) 2023. 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 |
Neurosciences |
| Manuscript Type |
Case Report |
| Article Title |
Identification of 1q21.1 microduplication in a family: A case report
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
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 and Gang Zhang |
| ORCID |
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| Funding Agency and Grant Number |
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| 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 |
| Key Words |
1q21.1 microduplication syndrome; Epilepsy; Copy number variation; Familial; Whole exon sequencing; Congenital developmental disorders; Case report |
| 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. |
| Publish Date |
2023-02-06 06:38 |
| Citation |
Huang TT, Xu HF, Wang SY, Lin WX, Tung YH, Khan KU, Zhang HH, Guo H, Zheng G, Zhang G. Identification of 1q21.1 microduplication in a family: A case report. World J Clin Cases 2023; 11(4): 874-882 |
| URL |
https://www.wjgnet.com/2307-8960/full/v11/i4/874.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v11.i4.874 |
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