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Articles Published Processes
9/25/2023 11:20:43 AM | Browse: 201 | Download: 532
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Received |
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2023-06-19 14:26 |
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Peer-Review Started |
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2023-06-19 14:28 |
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To Make the First Decision |
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Return for Revision |
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2023-08-16 05:26 |
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Revised |
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2023-08-23 11:45 |
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Second Decision |
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2023-09-14 02:53 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2023-09-14 08:24 |
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Articles in Press |
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2023-09-14 08:24 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2023-09-12 12:45 |
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Typeset the Manuscript |
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2023-09-18 03:13 |
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Publish the Manuscript Online |
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2023-09-25 11:20 |
| 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: https://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
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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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| 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 |
Confusing finding of quantitative fluorescent polymerase chain reaction analysis in invasive prenatal genetic diagnosis: A case report
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Cui Chen, Tao Tang, Qi-Ling Song, Yong-Jun He and Yan Cai |
| ORCID |
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| Funding Agency and Grant Number |
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| Corresponding Author |
Yan Cai, MD, PhD, Chief Physician, Professor, Genetic and Prenatal Diagnosis Center, Affiliated Hospital of North Sichuan Medical College, No. 1 South Maoyuan Road, Shunqing District, Nanchong 637000, Sichuan Province, China. caiyandd@163.com |
| Key Words |
Quantitative fluorescent polymerase chain reaction; Copy number variation sequencing; Prenatal diagnosis; Partial duplication; Karyotyping; Case report |
| Core Tip |
This case represented an interesting and clinically rare occurrence. The short tandem repeat marker AMXY (Xp22.2/Yp11.2) located on the sex chromosome exhibited a trisomic biallelic pattern in quantitative fluorescent polymerase chain reaction (QF-PCR), indicating the possible existence of two Y chromosomes. However, by analyzing the results of copy number variation sequencing (CNV-Seq) and karyotyping, the fetus was confirmed to have only a partial duplication of the Y chromosome instead of the 47,XYY karyotype. The duplications identified do not include any genes annotated in the Online Mendelian Inheritance in Man (OMIM) database and will not cause the occurrence of birth defects. Therefore, when an abnormality is detected in the QF-PCR data mentioned above, additional methods should be used for comprehensive judgment to avoid misdiagnosis. The strength of the present report is that it provides valuable experience for prenatal diagnosis. |
| Publish Date |
2023-09-25 11:20 |
| Citation |
Chen C, Tang T, Song QL, He YJ, Cai Y. Confusing finding of quantitative fluorescent polymerase chain reaction analysis in invasive prenatal genetic diagnosis: A case report. World J Clin Cases 2023; 11(28): 6895-6901 |
| URL |
https://www.wjgnet.com/2307-8960/full/v11/i28/6895.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v11.i28.6895 |
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