A Turkish patient with large 17p11.2 deletion presenting with Smith Magenis syndrome

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dc.authorid0000-0002-2408-5294en_US
dc.authorid0000-0001-9063-1073en_US
dc.authorid0000-0002-2408-5294
dc.contributor.authorTuğ, Esra
dc.contributor.authorCine, Naci
dc.contributor.authorAydın, Hatip
dc.date.accessioned2021-06-23T19:28:31Z
dc.date.available2021-06-23T19:28:31Z
dc.date.issued2011
dc.departmentBAİBÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractA Turkish patient with large 17p11.2 deletion presenting with Smith Magenis Syndrome: Smith-Magenis syndrome (SMS), which occurs as a result of an interstitial deletion within chromosome 17p11.2-p12, is a disorder that presents itself with minor dysmorphic features, brachydactyly, short stature, hypotonia, delayed speech, cognitive deficits and neurobehavioral problems including sleep disturbances and maladaptive repetitive and self-injurious behavior. We present a girl with full SMS phenotype. G-banding cytogenetic analysis showed normal 46,XX karyotype. Whole-genome array comparative genomic hybridization (CGH) was performed due to the severity of the phenotype and the unusual features present in the patient. An interstitial deletion in 17p11.2-p12, similar to 4.73 Mb in size was determined. Characteristic physical and behavioral phenotype strongly suggested SMS. This, to the best of our knowledge is the first patient with SMS reported in Turkey. We emphasize the need for whole genome analysis in multiple congenital abnormalities/mental retardation disorders with unusual and severe phenotypes.en_US
dc.identifier.endpage19en_US
dc.identifier.issn1015-8146
dc.identifier.issue1en_US
dc.identifier.pmid21614983en_US
dc.identifier.scopus2-s2.0-79955698280en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage11en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12491/7032
dc.identifier.urihttps://pubmed.ncbi.nlm.nih.gov/21614983/
dc.identifier.volume22en_US
dc.identifier.wosWOS:000289751600002en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorTuğ, Esra
dc.institutionauthorAydın, Hatip
dc.language.isoenen_US
dc.publisherMedecine Et Hygieneen_US
dc.relation.ispartofGenetic Counselingen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectSmith-Magenis Syndromeen_US
dc.subject17p11.2-p12 Interstitial Deletionen_US
dc.subjectArray Comparative Denomic Hybridizationen_US
dc.titleA Turkish patient with large 17p11.2 deletion presenting with Smith Magenis syndromeen_US
dc.typeArticleen_US

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