Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Aug 26, 2021; 9(24): 7139-7145
Published online Aug 26, 2021. doi: 10.12998/wjcc.v9.i24.7139
New mechanism of partial duplication and deletion of chromosome 8: A case report
Yan Jiang, Shuang Tang, Fang He, Jue-Xin Yuan, Zhu Zhang
Yan Jiang, Shuang Tang, Jue-Xin Yuan, Office of Prenatal Diagnosis, Mianyang People’s Hospital, Mianyang 621000, Sichuan Province, China
Fang He, Department of Obstetrics, Mianyang People’s Hospital, Mianyang 621000, Sichuan Province, China
Zhu Zhang, Office of Prenatal Diagnosis, West China Second University Hospital, Sichuan University, Chengdu 610000, Sichuan Province, China
Author contributions: Jiang Y and He F reviewed the literature and contributed to manuscript drafting; Yuan JX performed the G-banding chromosome analyses and contributed to manuscript drafting; Tang S performed the genetic counseling and contributed to manuscript drafting; Zhang Z performed the chromosome microarray analysis and contributed to manuscript drafting; Jiang Y and Tang S were responsible for revision of the manuscript for important intellectual content; all authors issued final approval for the version to be submitted.
Informed consent statement: The patient provided informed written consent prior to study enrollment.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
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: Shuang Tang, MBBS, Attending Doctor, Office of Prenatal Diagnosis, Mianyang People’s Hospital, No. 10-12 West Jiannan Road, Fuchen District, Mianyang 621000, Sichuan Province, China. 154179285@qq.com
Received: February 21, 2021
Peer-review started: February 21, 2021
First decision: May 6, 2021
Revised: May 23, 2021
Accepted: June 7, 2021
Article in press: June 7, 2021
Published online: August 26, 2021
Processing time: 183 Days and 14.6 Hours
Core Tip

Core Tip: The mechanism of partial deletion/duplication at the end of chromosome 8 involves two prevailing theories: Parental chromosome 8 inversion producing unbalanced gametes, and a recombination hot spot of chromosome 8p. Although the recombination hot spot of chromosome 8q occurring during mitosis is rarely reported, it was confirmed in the present case. Non-invasive prenatal testing (NIPT) for copy number variation has been used, but 40% or less mosaic abnormalities cannot be detected by NIPT. When chromosome 8 partial deletion/duplication occurs, in addition to the unbalanced gamete production caused by parental chromosome 8 inversion, attention should be paid to the mechanism of spontaneous recombination in meiosis or mitosis.