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Publication Name World Journal of Cardiology
Manuscript ID 34049
Country of Manuscript Source Denmark
Specialty Genetics and Heredity
Manuscript Type Case Report
Article Title Transposition of the great arteries – a phenotype associated with 16p11.2 duplications?
Manuscript Source Unsolicited Manuscript
All Author List Zarmiga Karunanithi, Else Marie Vestergaard and Mette H Lauridsen
Funding Agency and Grant Number
Funding Agency Grant Number
Helga and Peter Kornings Fund
Correspondence To Mette H Lauridsen, MD, Department of Pediatrics and Adolescent Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, Aarhus N 8200, Denmark. lauridsen.mette@auh.rm.dk
Keywords Transposition of the great arteries; Copy number variation; Genetics; 16p11.2; Microduplication
Core Tip Rare copy number variations may be of significance to the aetiology of transposition of the great arteries. This paper reports, for the first time, the finding of a 16p11.2 mi-croduplication in a patient with transposition of the great arteries. Recognizing a possible genetic association to transposition of the great arteries will spur investigations into asso-ciated phenotypic effects such as developmental delays, thus allowing for earlier identifi-cation and treatment. We recommend that chromosomal microarray be considered part of the diagnostic work-up in patients with transposition of the great arteries.
Citation Karunanithi Z, Vestergaard EM, Lauridsen MH. Transposition of the great arteries – a phenotype associated with 16p11.2 duplications? World J Cardiol 2017; In press
Received
2017-03-24 09:10
Peer-Review Started
2017-03-24 17:15
To Make the First Decision
2017-07-10 00:50
Return for Revision
2017-07-17 09:15
Revised
2017-08-21 08:14
Second Decision
2017-09-08 01:21
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2017-09-13 20:03
Articles in Press
2017-09-13 20:03
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
ISSN 1949-8462 (online)
Open Access This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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) 2017. Published by Baishideng Publishing Group Inc. All rights reserved.
Permissions For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
Publisher Baishideng Publishing Group Inc, 7901 Stoneridge Drive, Suite 501, Pleasanton, CA 94588, USA
Website http://www.wjgnet.com
Assistant Editor Xiang Li
Science Editor Jin-Xin Kong
Reviewer Code 02576140, and 02745062
Editorial Director Yuan Qi
Journal Chief Editor
Company Chief Editor Na Ma
Language Editor
Electronic Editor
Responsible Electronic Editor
Responsible Science Editor
Proofing Editorial Director Jin-Lei Wang
Proofing Editor-in-Chief Lian-Sheng Ma
Revised Manuscript 34049-Review.docx
Peer-review Report 34049-Peer-review(s).pdf
Answering Reviewers 34049-Answering reviewers.pdf
Scientific Misconduct Check 34049-Scientific misconduct check.pdf
Scientific Editor Work List 34049-Scientific editor work list.pdf
Audio 34049-Audio core tip.m4a
Conflict-of-Interest Statement 34049-Conflict-of-interest statement.pdf
Copyright Assignment 34049-Copyright assignment.pdf
Approved Grant Application Form(s) or Funding Agency Copy of any Approval Document(s) 34049-Grant application form(s).pdf
Informed Consent Statement 34049-Informed consent statement.pdf
Institutional Review Board Statement 34049-Institutional review board statement.pdf
Non-Native Speakers of English 34049-Language certificate.pdf