Prenatal diagnosis of 20p13 microdeletion syndrome

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dc.authoridatli, emine ikbal/0000-0001-9003-1449
dc.authoridYener, Cem/0000-0002-3976-4492
dc.authorwosidATLI, Engin/AAY-4641-2021
dc.authorwosidatli, emine ikbal/AAN-5060-2020
dc.contributor.authorYener, Cem
dc.contributor.authorSay, Cenk
dc.contributor.authorInan, Cihan
dc.contributor.authorGurkan, Hakan
dc.contributor.authorAtli, Emine Ikbal
dc.contributor.authorAtli, Engin
dc.contributor.authorAltan, Esra
dc.date.accessioned2024-06-12T10:51:27Z
dc.date.available2024-06-12T10:51:27Z
dc.date.issued2021
dc.departmentTrakya Üniversitesien_US
dc.description.abstractObjective: The objective of this study was to report the first case of prenatal diagnosis of the fetal 20p13 microdeletion syndrome in the literature. Case report: The mother was 31 years old and had a first trimester serum screening that indicated the fetus was at low risk. The prenatal ultrasound at 23 weeks of gestation showed mild ventriculomegaly (10.2 mm) and absent septum pellucidum. She underwent amniocentesis because of the abnormal imaging results. Karyotype analysis revealed normal results. Chromosome microarray analysis (CMA) was then performed to provide genetic analysis of the fetus and parents. CMA detected 317.902 kb deletion of 20p13 in fetus. Finally, pregnancy was terminated at 32 weeks of gestation. Conclusion: This study is the first to report the prenatal diagnosis of a 20p13 microdeletion syndrome. Our results further confirmed that genes in this region, including SOX12, NRSN2 are essential for normal fetal growth and TBC1D20 for normal brain development. (c) 2021 Taiwan Association of Obstetrics & Gynecology. Publishing services by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).en_US
dc.identifier.doi10.1016/j.tjog.2021.01.015
dc.identifier.endpage354en_US
dc.identifier.issn1028-4559
dc.identifier.issue2en_US
dc.identifier.pmid33678341en_US
dc.identifier.scopus2-s2.0-85100440797en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage350en_US
dc.identifier.urihttps://doi.org/10.1016/j.tjog.2021.01.015
dc.identifier.urihttps://hdl.handle.net/20.500.14551/18370
dc.identifier.volume60en_US
dc.identifier.wosWOS:000631779400025en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherElsevier Taiwanen_US
dc.relation.ispartofTaiwanese Journal Of Obstetrics & Gynecologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectAmniocentesisen_US
dc.subjectMicrodeletionen_US
dc.subjectPrenatal Diagnosisen_US
dc.subjectSeptum Pellucidumen_US
dc.titlePrenatal diagnosis of 20p13 microdeletion syndromeen_US
dc.typeArticleen_US

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