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9/20/2023 4:48:37 PM | Browse: 139 | Download: 381
Publication Name World Journal of Clinical Cases
Manuscript ID 85579
Country China
Received
2023-05-07 13:40
Peer-Review Started
2023-05-07 13:42
To Make the First Decision
Return for Revision
2023-07-03 08:22
Revised
2023-08-08 14:55
Second Decision
2023-08-29 02:49
Accepted by Journal Editor-in-Chief
Accepted by Executive Editor-in-Chief
2023-08-29 09:14
Articles in Press
2023-08-29 09:14
Publication Fee Transferred
Edit the Manuscript by Language Editor
2023-08-19 19:33
Typeset the Manuscript
2023-09-08 02:32
Publish the Manuscript Online
2023-09-20 16:48
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.
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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 Pediatrics
Manuscript Type Case Report
Article Title Methyl-CpG-Binding protein 2 duplication syndrome in a Chinese patient: A case report and review of the literature
Manuscript Source Unsolicited Manuscript
All Author List Xu-Hang Xing, Russel Takam, Xiu-Ying Bao, Nour Abdallah Ba-alwi and Hong Ji
ORCID
Author(s) ORCID Number
Xu-Hang Xing http://orcid.org/0009-0002-7340-3831
Russel Takam http://orcid.org/0000-0002-0309-743X
Xiu-Ying Bao http://orcid.org/0000-0003-0974-9037
Nour Abdallah Ba-alwi http://orcid.org/0009-0004-7930-1523
Hong Ji http://orcid.org/0009-0000-8288-5030
Funding Agency and Grant Number
Corresponding Author Hong Ji, MD, PhD, Doctor, Doctor, Professor, Department of Pediatrics, The First Part of The First Affiliated Hospital of Dalian Medical University, No. 222 Zhongshan Road, Xigang District, Dalian 116011, Liaoning Province, China. jihongsdq@126.com
Key Words Methyl-CpG-binding protein 2; Neurodevelopmental Delay; Xq28 duplication; Array comparative genomic hybridization; Case report
Core Tip Methyl-CpG-binding protein 2 (MECP2) duplication syndrome is a rare X-linked neurodevelopmental disorder. There is a paucity of data describing typical MECP2 syndrome cases in the literature. We describe the case of a Chinese boy with no history of seizure, recurrent infections, or bowel impairment from birth, who inherited duplication of the Xq28 region, including MECP2, from his mother who is a carrier, and discussed the clinical and genetic characteristics of this family. A lack of microduplication of genes in the Xq28 region may explain the absence of typical symptoms, which adds to previous reports of a rare genetic mutation in China.
Publish Date 2023-09-20 16:48
Citation Xing XH, Takam R, Bao XY, Ba-alwi NA, Ji H. Methyl-CpG-Binding protein 2 duplication syndrome in a Chinese patient: A case report and review of the literature. World J Clin Cases 2023; 11(27): 6505-6514
URL https://www.wjgnet.com/2307-8960/full/v11/i27/6505.htm
DOI https://dx.doi.org/10.12998/wjcc.v11.i27.6505
Full Article (PDF) WJCC-11-6505-with-cover.pdf
Full Article (Word) WJCC-11-6505.docx
CARE Checklist–2016 85579-CARE Checklist (2016).pdf
Manuscript File 85579_Auto_Edited-Webster JR-JLW.docx
Answering Reviewers 85579-Answering reviewers.pdf
Audio Core Tip 85579-Audio core tip.m4a
Conflict-of-Interest Disclosure Form 85579-Conflict-of-interest statement.pdf
Copyright License Agreement 85579-Copyright license agreement.pdf
Signed Consent for Treatment Form(s) or Document(s) 85579-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 85579-Language certificate.pdf
Peer-review Report 85579-Peer-review(s).pdf
Scientific Misconduct Check 85579-Bing-Liu JH-2.png
Scientific Misconduct Check 85579-CrossCheck.png
Scientific Editor Work List 85579-Scientific editor work list.pdf
CrossCheck Report 85579-CrossCheck report.pdf