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dc.contributor.authorErol, Ilknur
dc.contributor.authorOnay, Ozge Surmeli
dc.contributor.authorYilmaz, Zerrin
dc.contributor.authorOzer, Ozge
dc.contributor.authorAlehan, Fusun
dc.contributor.authorSahin, Feride Iffet
dc.date.accessioned2019-11-20T11:35:05Z
dc.date.available2019-11-20T11:35:05Z
dc.date.issued2015
dc.identifier.issn0250-5150
dc.identifier.urihttps://dergipark.org.tr/tr/download/article-file/47417
dc.identifier.urihttp://hdl.handle.net/11727/4207
dc.description.abstractPhelan-McDermid syndrome, also known as 22q13.3 deletion syndrome, is characterized by global developmental delay, absent or delayed speech, generalized hypotonia, and minor physical anomalies. The deletion typically involves the terminal band 22q13.3 and has been associated with both familial and de-novo translocations. We report the case of an 11-year-old Turkish girl with 22q13.3 deletion syndrome presenting with repeated seizures during the course of a rubella infection. We also review the clinical features of 22q13.3 deletion syndrome and emphasize the importance of considering a rare microdeletion syndrome for idiopathic mental retardation when results of a routine karyotype analysis are normal. To the best of our knowledge, this is the first reported case of a Turkish patient with isolated 22q13.3 deletion syndrome.en_US
dc.language.isoengen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subject22q13.3 deletion syndromeen_US
dc.subjectAphasiaen_US
dc.subjectEpilepsyen_US
dc.subjectMental retardationen_US
dc.title22q13.3 Deletion Syndrome: An Underdiagnosed Cause of Mental Retardationen_US
dc.typearticleen_US
dc.relation.journalCUKUROVA MEDICAL JOURNALen_US
dc.identifier.volume40en_US
dc.identifier.issue1en_US
dc.identifier.startpage169en_US
dc.identifier.endpage173en_US
dc.identifier.wos000360662600028


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