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3/10/2023 3:17:08 AM | Browse: 203 | Download: 547
Publication Name World Journal of Medical Genetics
Manuscript ID 81957
Country Australia
Received
2022-11-30 04:05
Peer-Review Started
2022-11-30 04:06
To Make the First Decision
Return for Revision
2023-01-12 04:15
Revised
2023-01-16 00:17
Second Decision
2023-03-01 03:06
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2023-03-01 08:30
Articles in Press
2023-03-01 08:30
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
2023-03-09 01:46
Publish the Manuscript Online
2023-03-10 01:48
ISSN 2220-3184 (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
Permissions For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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 Phenotypic and cytogenetic features of an Iranian child with tetrasomy 18p syndrome: A case report
Manuscript Source Unsolicited Manuscript
All Author List Sara Esmaeili and Cory J Xian
Funding Agency and Grant Number
Corresponding Author Cory J Xian, PhD, Professor, UniSA Clinical and Health Sciences, University of South Australia, North Terrace, GPO Box 2471, Adelaide 5001, SA, Australia. cory.xian@unisa.edu.au
Key Words Tetrasomy 18p; Phenotypic features; Clinical features; Chromosome abnormality; Cytogenetic analysis; Case report
Core Tip Gathering data from different cases for the rare tetrasomy 18p chromosome abnormality disorder will facilitate mastering its genotype-phenotype relationship and diagnosis. This report described features for the first time for an Iranian patient. Compared to previously reported cases, this Iranian child displays a uniquely strong sense of smell, some less reported dysmorphic features and ten features generally reported. Her cytogenetic analyses revealed a small marker chromosome with a gain of 14Mb at the 18p arm. Apart from the usual clinical assessments, the non-invasive prenatal genetic testing is suggested to be used as a more accurate screening for detecting tetrasomy 18p.
Publish Date 2023-03-10 01:48
Citation Esmaeili S, Xian CJ. Phenotypic and cytogenetic features of an Iranian child with tetrasomy 18p syndrome: A case report. World J Med Genet 2023; 11(1): 1-7
URL https://www.wjgnet.com/2220-3184/full/v11/i1/1.htm
DOI https://dx.doi.org/10.5496/wjmg.v11.i1.1
Full Article (PDF) WJMG-11-1.pdf
Full Article (Word) WJMG-11-1.docx
CARE Checklist–2016 81957-CARE-Checklist–2016-revision.pdf
Manuscript File 81957_Auto_Edited-JLW.docx
Answering Reviewers 81957-Answering reviewers.pdf
Audio Core Tip 81957-Audio core tip.mp3
Conflict-of-Interest Disclosure Form 81957-Conflict-of-interest statement.pdf
Copyright License Agreement 81957-Copyright license agreement.pdf
Signed Consent for Treatment Form(s) or Document(s) 81957-Informed consent statement.pdf
Peer-review Report 81957-Peer-review(s).pdf
Scientific Misconduct Check 81957-Bing-Ma YJ-2.jpg
Scientific Editor Work List 81957-Scientific editor work list.pdf