Cytogenetic and clinical features of a 13 year old male with trisomy 8

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dc.contributor.authorBalkan, Mahmut
dc.contributor.authorFidanboy, Mehmet
dc.contributor.authorOzmen, Cihan
dc.contributor.authorOzbek, M. Nuri
dc.contributor.authorOtcu, Selcuk
dc.contributor.authorKapi, Emin
dc.contributor.authorBudak, Turgay
dc.date.accessioned2024-04-24T17:20:44Z
dc.date.available2024-04-24T17:20:44Z
dc.date.issued2012
dc.departmentDicle Üniversitesien_US
dc.description.abstractTrisomy 8 is a relatively rare chromosomal abnormality. The majority of cases present with the mosaic form. Regular trisomy 8 is usually lethal and frequently results in miscarriage, while those with trisomy 8 mosaicism are more likely to survive. We report clinical observations and cytogenetic studies of a 13-year-old male with regular trisomy 8 and compared with those of other known cases of trisomy 8. The most discriminating findings for this condition are skeletal anomalies, restricted articular function, and speech problems. Our results are in agreement with those of previous studies for trisomy 8.en_US
dc.identifier.doi10.3233/PGE-2012-032
dc.identifier.endpage208en_US
dc.identifier.issn2146-4596
dc.identifier.issn2146-460X
dc.identifier.issue3en_US
dc.identifier.pmid27625824
dc.identifier.startpage205en_US
dc.identifier.urihttps://doi.org/10.3233/PGE-2012-032
dc.identifier.urihttps://hdl.handle.net/11468/19219
dc.identifier.volume1en_US
dc.identifier.wosWOS:000218746800009
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
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.subjectTrisomy 8en_US
dc.subjectSkeletal Anomaliesen_US
dc.subjectRestricted Articular Functionen_US
dc.subjectChromosomeen_US
dc.titleCytogenetic and clinical features of a 13 year old male with trisomy 8en_US
dc.titleCytogenetic and clinical features of a 13 year old male with trisomy 8
dc.typeArticleen_US

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