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Publication Name World Journal of Clinical Cases
Manuscript ID 62249
Country China
Category Genetics & Heredity
Manuscript Type Case Report
Article Title New mechanism of partial duplication and deletion of chromosome 8: A case report
Manuscript Source Unsolicited Manuscript
All Author List Yan Jiang, Shuang Tang, Fang He, Jue-Xin Yuan and Zhu Zhang
Funding Agency and Grant Number
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
Key Words Chromosome 8; Spontaneous mutation; Mitosis; Non-invasive prenatal testing; Case report
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 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.
Citation Jiang Y, Tang S, He F, Yuan JX, Zhang Z. New mechanism of partial duplication and deletion of chromosome 8: A case report. World J Clin Cases 2021; 9(24): 7139-7145
Received
2021-02-21 11:28
Peer-Review Started
2021-02-21 11:28
To Make the First Decision
Return for Revision
2021-05-06 18:36
Revised
2021-05-23 09:45
Second Decision
2021-06-07 12:57
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2021-06-07 13:15
Articles in Press
2021-06-07 13:15
Publication Fee Transferred
Edit the Manuscript by Language Editor
2021-07-16 07:25
Typeset the Manuscript
2021-08-16 15:49
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/
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