Distal trisomy 10q24 due to maternal 10;22 translocation, third case in the same family

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dc.contributor.authorTasdemir, Pelin
dc.contributor.authorZamani, Ayse Gul
dc.contributor.authorDemirel, Sennur S.
dc.contributor.authorAcar, Aynur
dc.date.accessioned2020-03-26T18:24:51Z
dc.date.available2020-03-26T18:24:51Z
dc.date.issued2012
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractDistal trisomy 10q is a well delineated but a rare syndrome with characteristic phenotypic features. We present clinical and cytogenetic data on a 7 day-old girl with distal 10q trisomy (10q24 -> qter), due to maternal t(10.22) reciprocal translocation. Her karyotype showed an unbalanced translocation between chromosomes 10 and 22, resulting in trisomy of the distal part of the long arm of chromosome 10q24.en_US
dc.identifier.doi10.2478/s11536-011-0162-6en_US
dc.identifier.endpage370en_US
dc.identifier.issn1895-1058en_US
dc.identifier.issue3en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage366en_US
dc.identifier.urihttps://dx.doi.org/10.2478/s11536-011-0162-6
dc.identifier.urihttps://hdl.handle.net/20.500.12395/27918
dc.identifier.volume7en_US
dc.identifier.wosWOS:000304396200018en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherVERSITAen_US
dc.relation.ispartofCENTRAL EUROPEAN JOURNAL OF MEDICINEen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectDistal trisomy 10qen_US
dc.subjectFacial dysmorphismen_US
dc.subjectCongenital malformationsen_US
dc.subjectFamilial reciprocal translocationsen_US
dc.titleDistal trisomy 10q24 due to maternal 10;22 translocation, third case in the same familyen_US
dc.typeArticleen_US

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