Prenatal diagnosis and molecular cytogenetic characterization of partial dup (18p)/del (18q) due to a maternal pericentric inversion 18 in a foetus with multiple anomalies

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dc.authoridatli, emine ikbal/0000-0001-9003-1449
dc.authorwosidDemir, Selma/A-1500-2018
dc.authorwosidatli, emine ikbal/AAN-5060-2020
dc.contributor.authorAtli, Emine Ikbal
dc.contributor.authorAtli, Engin
dc.contributor.authorInan, Cihan
dc.contributor.authorVarol, Gulizar Fusun
dc.contributor.authorMail, Cisem
dc.contributor.authorErbilen, Esra Altan
dc.contributor.authorYalcintepe, Sinem
dc.date.accessioned2024-06-12T11:12:49Z
dc.date.available2024-06-12T11:12:49Z
dc.date.issued2022
dc.departmentTrakya Üniversitesien_US
dc.description.abstractObjective: The 18q terminal deletion with inverted duplication is an extremely rare abnormality, with only three confirmed cases in Europe to date. Here, we report, for the first time, a case of de novo 18q invdup-del in a Turkish pregnant woman. Case report: A 30-year-old pregnant woman was referred for genetic analysis at her 25th gestational week due to foetal diaphragmatic hernia and rocker bottom feet. Cytogenetic analysis of the parents revealed a karyotype of 46,XX,inv(18) (p11.3q21.3) of the mother and a normal karyotype of the father. The foetal karyotype was defined as 46,XX,rec(18)del(18q)inv(18) (p11.3q21.3)mat. Conclusion: To our knowledge, this is the first report of a prenatal diagnosis. Genetic counselling issues for this family, particularly affected individuals, include an increased likelihood of reduced fertility and a risk of recurrence of parental inversion equal to 1/2 in surviving offspring. (c) 2022 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.2022.03.018
dc.identifier.endpage509en_US
dc.identifier.issn1028-4559
dc.identifier.issue3en_US
dc.identifier.pmid35595446en_US
dc.identifier.scopus2-s2.0-85127761482en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage504en_US
dc.identifier.urihttps://doi.org/10.1016/j.tjog.2022.03.018
dc.identifier.urihttps://hdl.handle.net/20.500.14551/23316
dc.identifier.volume61en_US
dc.identifier.wosWOS:000806635300020en_US
dc.identifier.wosqualityQ3en_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.subjectPrenatal Diagnosisen_US
dc.subjectPericentric Inversionen_US
dc.subjectChromosome 18en_US
dc.subjectKaryotypingen_US
dc.subjectPure Trisomy 18pen_US
dc.subjectDeletionen_US
dc.titlePrenatal diagnosis and molecular cytogenetic characterization of partial dup (18p)/del (18q) due to a maternal pericentric inversion 18 in a foetus with multiple anomaliesen_US
dc.typeArticleen_US

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