Prenatal diagnosis of a case with tetrasomy 9p confirmed by cytogenetics, FISH, microarray analysis and review

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dc.authoridökmen, fırat/0000-0001-7731-0814
dc.authoridekici, huseyin/0000-0001-8541-1199
dc.authorscopusid57316606600
dc.authorscopusid16444898100
dc.authorscopusid6602888517
dc.authorscopusid23472577300
dc.authorscopusid57204731546
dc.authorscopusid41461297500
dc.authorscopusid55338707700
dc.authorwosidökmen, fırat/GQQ-3216-2022
dc.authorwosidCOGULU, OZGUR/W-2994-2017
dc.authorwosidekici, huseyin/AAO-7941-2020
dc.contributor.authorKilic, Gizem Kok
dc.contributor.authorPariltay, Erhan
dc.contributor.authorKaraca, Emin
dc.contributor.authorDurmaz, Burak
dc.contributor.authorEkici, Huseyin
dc.contributor.authorImamoglu, Metehan
dc.contributor.authorOkmen, Firat
dc.date.accessioned2023-01-12T19:58:25Z
dc.date.available2023-01-12T19:58:25Z
dc.date.issued2022
dc.departmentN/A/Departmenten_US
dc.description.abstractObjective: Tetrasomy 9p is a rare fetal condition. Cases are usually mosaic. Here, we present a non-mosaic tetrasomy 9p case with cytogenetic analysis, fluorescence in situ hybridization, microarray data, ultrasound findings, and phenotypic presentation. Case report: A pregnancy was referred to cytogenetic analysis because of increased nuchal translucency in prenatal ultrasound at 13 weeks of gestation. Prenatal laboratory analysis revealed an extra marker chromosome with a non-mosaic pattern. Ultrasonographic findings were unilateral cleft lip and palate, micrognathia, and atrioventricular septal defect at the 17th week; additionally, ventriculomegaly, left axis deviation of the fetal heart, and a single umbilical artery were determined at the 23rd week. Conclusion: Phenotypic severity in non-mosaic tetrasomy 9p widely differs depending on the chromosomal content. We recommend performing appropriate genetic tests in those pregnancies with the suspicion of tetrasomy 9p, evaluating the mosaic state, and following those cases with detailed ultrasonographic examinations. (C) 2022 Taiwan Association of Obstetrics & Gynecology. Publishing services by Elsevier B.V.en_US
dc.identifier.doi10.1016/j.tjog.2021.10.003
dc.identifier.endpage126en_US
dc.identifier.issn1028-4559
dc.identifier.issue1en_US
dc.identifier.pmid35181020en_US
dc.identifier.scopus2-s2.0-85118274942en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage122en_US
dc.identifier.urihttps://doi.org/10.1016/j.tjog.2021.10.003
dc.identifier.urihttps://hdl.handle.net/11454/76896
dc.identifier.volume61en_US
dc.identifier.wosWOS:000759377100023en_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.publicationcategoryDiğeren_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectGenetic counselingen_US
dc.subjectMicroarray analysisen_US
dc.subjectPrenatal diagnosisen_US
dc.subjectTetrasomy 9pen_US
dc.subjectFetusen_US
dc.subjectDelineationen_US
dc.titlePrenatal diagnosis of a case with tetrasomy 9p confirmed by cytogenetics, FISH, microarray analysis and reviewen_US
dc.typeReviewen_US

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