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3/10/2023 3:17:08 AM | Browse: 418 | Download: 1429
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Received |
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2022-11-30 04:05 |
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2022-11-30 04:06 |
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2023-01-12 04:15 |
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2023-01-12 04:15 |
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2023-01-16 00:17 |
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Second Decision by Editor |
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2023-03-01 03:06 |
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2023-03-01 08:30 |
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Articles in Press |
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2023-03-01 08:30 |
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Edit the Manuscript by Language Editor |
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Typeset the Manuscript |
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2023-03-09 01:46 |
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Publish the Manuscript Online |
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2023-03-10 01:48 |
| ISSN |
2220-3184 (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/ |
| 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 |
Phenotypic and cytogenetic features of an Iranian child with tetrasomy 18p syndrome: A case report
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Sara Esmaeili and Cory J Xian |
| Funding Agency and Grant Number |
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| Corresponding Author |
Cory J Xian, PhD, Professor, UniSA Clinical and Health Sciences, University of South Australia, North Terrace, GPO Box 2471, Adelaide 5001, SA, Australia. cory.xian@unisa.edu.au |
| Key Words |
Tetrasomy 18p; Phenotypic features; Clinical features; Chromosome abnormality; Cytogenetic analysis; Case report |
| Core Tip |
Gathering data from different cases for the rare tetrasomy 18p chromosome abnormality disorder will facilitate mastering its genotype-phenotype relationship and diagnosis. This report described features for the first time for an Iranian patient. Compared to previously reported cases, this Iranian child displays a uniquely strong sense of smell, some less reported dysmorphic features and ten features generally reported. Her cytogenetic analyses revealed a small marker chromosome with a gain of 14Mb at the 18p arm. Apart from the usual clinical assessments, the non-invasive prenatal genetic testing is suggested to be used as a more accurate screening for detecting tetrasomy 18p. |
| Publish Date |
2023-03-10 01:48 |
| Citation |
Esmaeili S, Xian CJ. Phenotypic and cytogenetic features of an Iranian child with tetrasomy 18p syndrome: A case report. World J Med Genet 2023; 11(1): 1-7 |
| URL |
https://www.wjgnet.com/2220-3184/full/v11/i1/1.htm |
| DOI |
https://dx.doi.org/10.5496/wjmg.v11.i1.1 |
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