Another small supernumerary marker chromosome derived from chromosome 9 in a Klinefelter patient

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dc.contributor.buuauthorGülten, Tuna
dc.contributor.buuauthorGörükmez, Orhan
dc.contributor.buuauthorKarkucak, Mutlu
dc.contributor.buuauthorTüre, Mehmet
dc.contributor.buuauthorYakut, Tahsin
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.tr_TR
dc.contributor.scopusid6505944216tr_TR
dc.contributor.scopusid56681045900tr_TR
dc.contributor.scopusid35388323500tr_TR
dc.contributor.scopusid6602186133tr_TR
dc.contributor.scopusid6602802424tr_TR
dc.date.accessioned2022-02-15T10:03:10Z
dc.date.available2022-02-15T10:03:10Z
dc.date.issued2012-12
dc.description.abstractMarker chromosomes are very rare in Klinefelter patients and phenotypic findings are related to the affected chromosomal region. The phenotypic effects of small supernumerary marker chromosomes (sSMC) range from multiple malformations/mental retardation to no effect (le a normal phenotype). This wide spectrum of phenotypes is due to the origin, structure and gene content of the marker chromosome. The first Klinefelter case with sSMC 9 was published by Liehr et al in 2005. The present case was referred for chromosomal analysis because of dysmorphic features, speech delay and mild mental retardation. Conventional cytogenetic analysis revealed the 47 XXY karyotype in 17 metaphases and the 48 XXY + marker karyotype in eight metaphases. Fluorescence in situ hybridization (FISH) analysis to identify the marker chromosome was performed using the LSI p16 (9p21) Spectrum Orange/CEP 9 SpectrumGreen Probe (Vysis CDKN2A/CEP 9 FISH Probe) and partial trisomy 9 mosaicism was confirmed in this patient. To our knowledge, this is the second case of Klinefelter syndrome with a small supernumerary marker chromosome derived from chromosome 9.en_US
dc.identifier.citationGülten, T. vd. (2012). "Another small supernumerary marker chromosome derived from chromosome 9 in a Klinefelter patient". West Indian Medical Journal, 61(9), 924-927.en_US
dc.identifier.endpage927tr_TR
dc.identifier.issn0043-3144
dc.identifier.issue9tr_TR
dc.identifier.pubmed24020236tr_TR
dc.identifier.scopus2-s2.0-84886778200tr_TR
dc.identifier.startpage924tr_TR
dc.identifier.urihttps://doi.org/10.7727/wimj.2012.027
dc.identifier.urihttps://www.mona.uwi.edu/fms/wimj/article/501
dc.identifier.urihttp://hdl.handle.net/11452/24481
dc.identifier.volume61tr_TR
dc.identifier.wos000322424300016tr_TR
dc.indexed.pubmedPubmeden_US
dc.indexed.scopusScopusen_US
dc.indexed.wosSCIEen_US
dc.language.isoenen_US
dc.publisherUniv West Indies Faculty Medical Sciencesen_US
dc.relation.journalWest Indian Medical Journalen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectGeneral & internal medicineen_US
dc.subjectFluorescence in situ hybridization (fish) analysisen_US
dc.subjectKlinefelter's syndromeen_US
dc.subjectSmall supernumerary marker chromosomeen_US
dc.subject.emtreeArticleen_US
dc.subject.emtreeCase reporten_US
dc.subject.emtreeChilden_US
dc.subject.emtreeChromosome 9en_US
dc.subject.emtreeChromosome analysisen_US
dc.subject.emtreeClinical articleen_US
dc.subject.emtreeFluorescence in situ hybridizationen_US
dc.subject.emtreeHumanen_US
dc.subject.emtreeHuman cellen_US
dc.subject.emtreeKaryotype 47,XXYen_US
dc.subject.emtreeKlinefelter syndromeen_US
dc.subject.emtreeMaleen_US
dc.subject.emtreeMental deficiencyen_US
dc.subject.emtreeMetaphaseen_US
dc.subject.emtreePartial trisomy 9en_US
dc.subject.emtreePatient referralen_US
dc.subject.emtreePreschool childen_US
dc.subject.emtreeSpeech delayen_US
dc.subject.emtreeSupernumerary chromosomeen_US
dc.subject.emtreeTeratologyen_US
dc.subject.emtreeArticleen_US
dc.subject.emtreeChromosome disorderen_US
dc.subject.emtreeGenetic markeren_US
dc.subject.emtreeGeneticsen_US
dc.subject.emtreeKaryotypingen_US
dc.subject.emtreeKlinefelter syndromeen_US
dc.subject.emtreeMosaicismen_US
dc.subject.emtreePhenotypeen_US
dc.subject.emtreetrisomyen_US
dc.subject.emtreeUniparental disomyen_US
dc.subject.meshChild, preschoolen_US
dc.subject.meshChromosome disordersen_US
dc.subject.meshChromosomes, human, pair 9en_US
dc.subject.meshGenetic markersen_US
dc.subject.meshHumansen_US
dc.subject.meshIn situ hybridization, fluorescenceen_US
dc.subject.meshKaryotypingen_US
dc.subject.meshKlinefelter syndromeen_US
dc.subject.meshMaleen_US
dc.subject.meshMosaicismen_US
dc.subject.meshPhenotypeen_US
dc.subject.meshTrisomyen_US
dc.subject.meshUniparental disomyen_US
dc.subject.scopusChromosome 15; Karyotype; Mosaicismen_US
dc.subject.wosMedicine, general & internalen_US
dc.titleAnother small supernumerary marker chromosome derived from chromosome 9 in a Klinefelter patienten_US
dc.typeArticle
dc.wos.quartileQ4en_US

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