Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Aug 16, 2021; 9(23): 6789-6797
Published online Aug 16, 2021. doi: 10.12998/wjcc.v9.i23.6789
2+0 CYP21A2 deletion carrier — a limitation of the genetic testing and counseling: A case report
Na Xi, Xiao Song, Xue-Yan Wang, Sheng-Fang Qin, Guan-Nan He, Ling-Ling Sun, Xi-Min Chen
Na Xi, Xiao Song, Xue-Yan Wang, Sheng-Fang Qin, Ling-Ling Sun, Xi-Min Chen, Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Hospital for Women and Children, Chengdu 610045, Sichuan Province, China
Guan-Nan He, Department of Ultrasound, Sichuan Provincial Hospital for Women and Children, Chengdu 610045, Sichuan Province, China
Author contributions: Xi N is responsible for the study conception and design, definition of intellectual content, literature research, clinical studies, data acquisition and analysis, statistical analysis, manuscript preparation and editing; Song X and He GN are responsible for the clinical studies, data acquisition; Wang XY is responsible for the integrity of the entire study, study conception and design, definition of intellectual content, clinical studies, data acquisition and manuscript review; Qin SF and Chen XM are responsible for the experimental studies; Sun LL is responsible for the clinical studies; all authors read and approved the final manuscript.
Supported by the Fundamental Research Funds of Health Commission of Sichuan Province, No. 17ZD035.
Informed consent statement: Informed consent was obtained.
Conflict-of-interest statement: There are no potential conflicts of interest to disclose.
CARE Checklist (2016) statement: The article was revised according to the journal guide.
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/
Corresponding author: Xue-Yan Wang, MD, Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Hospital for Women and Children, No. 290 Shayanxi Er Street, Wuhou District, Chengdu 610045, Sichuan Province, China. wang_xueyan20@21cn.com
Received: January 7, 2021
Peer-review started: January 7, 2021
First decision: February 12, 2021
Revised: March 4, 2021
Accepted: June 28, 2021
Article in press: June 28, 2021
Published online: August 16, 2021
Core Tip

Core Tip: This study suggests that carriers of type 2+0 are likely to be a trap in genetic testing and genetic counseling.