First Genetic Screening for Maternal Uniparental Disomy of Chromosome 7 in Turkish Silver-Russell Syndrome Patients

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dc.contributor.authorKaraca, Emin
dc.contributor.authorTuysuz, Beyhan
dc.contributor.authorPehlivan, Sacide
dc.contributor.authorÖzkınay, Ferda
dc.date.accessioned2019-10-27T21:55:51Z
dc.date.available2019-10-27T21:55:51Z
dc.date.issued2012
dc.departmentEge Üniversitesien_US
dc.description.abstractObjective: Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous syndrome which is characterized by severe intrauterine and postnatal growth retardation, and typical characteristic facial dysmorphisms. It has been associated with maternal uniparental disomy (UPD) for chromosome 7 and hypomethylation of imprinting control region 1 (IGF2/H19) in 11p15. UPD refers to the situation in which both copies of a chromosome pair have originated from one parent. UPD can be presented both as partial heterodisomy and isodisomy. The aim of this study was to determine the maternal UPD7 (matUPD7) in 13 Turkish SRS patients. Methods: Genotyping for matUPD7 was performed with microsatellite markers by polymerase chain reaction. Findings: The maternal UPD7 including the entire chromosome was identified in 1/13 (7.6 %) of individuals within SRS patients. There were no significant differences between clinical features of matUPD7 case and other SRS cases except congenital heart defects. Conclusion: It is often difficult to establish diagnosis of a child with intrauterine growth retardation (IUGR), growth failure and dysmorphic features. Thus, screening for matUPD7 in IUGR children with growth failure and mild SRS features might be a valuable diagnostic tool.en_US
dc.identifier.endpage451en_US
dc.identifier.issn2008-2142
dc.identifier.issue4en_US
dc.identifier.pmid23429302en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage445en_US
dc.identifier.urihttps://hdl.handle.net/11454/48283
dc.identifier.volume22en_US
dc.identifier.wosWOS:000320852500003en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherIranian Scientific Society Medical Entomologyen_US
dc.relation.ispartofIranian Journal of Pediatricsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectSilver-Russell Syndromeen_US
dc.subjectMaternal UPD7en_US
dc.subjectMicrosatellite Markersen_US
dc.subjectIntrauterine Growth Retardationen_US
dc.titleFirst Genetic Screening for Maternal Uniparental Disomy of Chromosome 7 in Turkish Silver-Russell Syndrome Patientsen_US
dc.typeArticleen_US

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