Indications for referral of Turner's syndrome cases diagnosed prenatally

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dc.contributor.authorYilmaz B.
dc.contributor.authorÖzkınay F.
dc.contributor.authorErcal D.
dc.contributor.authorSagol S.
dc.contributor.authorKanit H.
dc.contributor.authorKirayoglu H.
dc.contributor.authorÖzkınay, Cihangir
dc.date.accessioned2019-10-27T00:10:16Z
dc.date.available2019-10-27T00:10:16Z
dc.date.issued2005
dc.departmentEge Üniversitesien_US
dc.description.abstractWe performed a retrospective study of 17 Turner's syndrome (TS) cases who were diagnosed prenatally in our Genetic Diagnostic Centre, Alsancak-Izmir, Turkey, during the period 2000-2005. The indications for prenatal diagnosis, ultra-sonographic findings and demographic data of the mothers were evaluated from patient records. The most frequent indications for prenatal diagnostic intervention were cystic hygroma (6/17) and hydrops fetalis (4/17). Other indications were advanced maternal age, abnormal triple test [alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), unconjugated estriol (Estriol)] levels in the diagnosis of Down's syndrome and fetal growth retardation. A 45,X non-mosaic karyotype (14/17) was detected in 14 of these cases, while three showed mosaicism with the following karyotypes: 45,XO/46,XX, 45,XO/46,XY and 45,XO/46,X,del (X)(q21;qter), respectively.en_US
dc.identifier.endpage30en_US
dc.identifier.issn1311-0160
dc.identifier.issn1311-0160en_US
dc.identifier.issue03.Apren_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage27en_US
dc.identifier.urihttps://hdl.handle.net/11454/21919
dc.identifier.volume8en_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.relation.ispartofBalkan Journal of Medical Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectCytogeneticen_US
dc.subjectIndicationen_US
dc.subjectPrenatal diagnosisen_US
dc.subjectTurner's syndromeen_US
dc.titleIndications for referral of Turner's syndrome cases diagnosed prenatallyen_US
dc.typeArticleen_US

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