Different chromosome Y abnormalities in a case with short stature

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dc.contributor.authorBalkan, Mahmut
dc.contributor.authorFidanboy, Mehmet
dc.contributor.authorOzbek, M. Nuri
dc.contributor.authorAlp, M. Nail
dc.contributor.authorBudak, Turgay
dc.date.accessioned2024-04-24T17:20:43Z
dc.date.available2024-04-24T17:20:43Z
dc.date.issued2012
dc.departmentDicle Üniversitesien_US
dc.description.abstractWe report a case with different chromosome Y abnormalities. Case was an 11-year-old boy, who was diagnosed with short stature, referred to laboratory of human medical genetics laboratory for genetic evaluation. Chromosomal analysis of the case was carried out on peripheral blood lymphocyte culture. Classic cytogenetic analysis (G and C banding) was confirmed by using fluorescence in situ hybridization analysis (FISH) technique. Cytogenetic and FISH analysis showed a mosaic 46, X, i(Yq)/45, X/47, X, i(Yq) x2/47, XYY karyotype. Case, which was found interesting due to its rarity, is discussed with its clinical features and cytogenetic results, in the light of relevant source information. This case underlines the importance of karyotyping patients with unexplained short stature. This clinical report also will be helpful in defining the phenotypic range associated with these karyotypes.en_US
dc.identifier.doi10.3233/PGE-12038
dc.identifier.endpage242en_US
dc.identifier.issn2146-4596
dc.identifier.issn2146-460X
dc.identifier.issue4en_US
dc.identifier.pmid27625830
dc.identifier.scopus2-s2.0-85013576329
dc.identifier.scopusqualityN/A
dc.identifier.startpage239en_US
dc.identifier.urihttps://doi.org/10.3233/PGE-12038
dc.identifier.urihttps://hdl.handle.net/11468/19217
dc.identifier.volume1en_US
dc.identifier.wosWOS:000218748400006
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherGeorg Thieme Verlag Kgen_US
dc.relation.ispartofJournal of Pediatric Genetics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectY Chromosomeen_US
dc.subjectShort Statureen_US
dc.subjectMosaicismen_US
dc.subjectFishen_US
dc.titleDifferent chromosome Y abnormalities in a case with short statureen_US
dc.titleDifferent chromosome Y abnormalities in a case with short stature
dc.typeArticleen_US

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