Evaluation of Six Patients with Chromosome 18 Structural Anomalies and Novel Findings

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dc.contributor.authorIsik, Esra
dc.contributor.authorAkgun, Bilcag
dc.contributor.authorAtik, Tahir
dc.contributor.authorÖzkınay, Ferda
dc.contributor.authorCogulu, Ozgur
dc.date.accessioned2020-12-01T11:57:40Z
dc.date.available2020-12-01T11:57:40Z
dc.date.issued2020
dc.departmentEge Üniversitesien_US
dc.description.abstractAim: Structural chromosome 18 anomalies are characterized by multiple congenital anomalies and intellectual disability. in this study, 6 cases with structural anomalies of chromosome 18 diagnosed by using conventional and molecular cytogenetic analyses are presented. Materials and Methods: Six cases who were carrying structural chromosome 18 abnormalities were enrolled in the study. Developmental milestones, growth parameters and dysmorphologic features were evaluated by experienced clinical geneticists. Laboratory analysis including genetic tests, imaging studies, and eye and hearing examinations were obtained from the medical records, retrospectively. Results: All cases had karyotype analysis, 2 cases had fluorescence in situ hybridization analysis and one case had microarray analysis, which were performed by using peripheral blood. A total of 6 cases in which del (18p) in one case, del (18q) in 4 cases and i (18q) in one case were evaluated. Conclusion: Although a wide range of phenotypic findings, depending on the affected chromosomal region and size, can be seen in patients who carry structural chromosome 18 anomalies, some additional novel features are presented in our series which will contribute to the literature.en_US
dc.identifier.doi10.4274/jpr.galenos.2019.38278
dc.identifier.endpage272en_US
dc.identifier.issn2147-9445
dc.identifier.issn2147-9445en_US
dc.identifier.issue4en_US
dc.identifier.startpage267en_US
dc.identifier.urihttps://doi.org/10.4274/jpr.galenos.2019.38278
dc.identifier.urihttps://hdl.handle.net/11454/61765
dc.identifier.volume7en_US
dc.identifier.wosWOS:000549099600002en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.language.isoenen_US
dc.publisherGalenos Yayinciliken_US
dc.relation.ispartofJournal of Pediatric Researchen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectChromosome 18en_US
dc.subjectstructural anomaliesen_US
dc.subjectdeletionen_US
dc.subjectduplicationen_US
dc.subjectisochromosomeen_US
dc.titleEvaluation of Six Patients with Chromosome 18 Structural Anomalies and Novel Findingsen_US
dc.typeArticleen_US

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