Double aneuploidy: A case of trisomy 21 with XYY [Çift An?ploidi: XYY'li Trizomi 21 Olgusu]

dc.contributor.authorKöken R.
dc.contributor.authorBükülmez A.
dc.contributor.authorKöken G.N.
dc.contributor.authorEser B.
dc.contributor.authorSamli H.
dc.contributor.authorDemir T.
dc.contributor.authorSolak M.
dc.date.accessioned2020-03-26T18:22:02Z
dc.date.available2020-03-26T18:22:02Z
dc.date.issued2011
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractAlthough aneuploidies are common structural chromosomal abnormalities, double aneuploidies involving chromosomes 21 and Y are very rare. Here we report a case of double aneuploidy involving chromosomes 21 and Y in a 5 day old baby with jaundice and polycythemia. The diagnosis was confirmed by karyotype analysis using modified "whole blood" and microtechnique methods followed by Giemsa-Trypsin-Leishman (GTL) banding technique. The patient had typical features of Down syndrome, however, phenotypic features of XYY was not present. In addition, the patient also had atrial septal defect, multiple trabecular small ventricular septal defect, and moderate degree of pulmonary hypertension. Etiological predisposing factor for 48,XYY,+21 is not known. It is difficult to determine the incidence, phenotypic properties, and recurrence risk of 48,XYY,+21.en_US
dc.identifier.endpage341en_US
dc.identifier.issn1304-3889en_US
dc.identifier.issue4en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage339en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12395/27087
dc.identifier.volume8en_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.relation.ispartofEuropean Journal of General Medicineen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectChromosomal anomaliesen_US
dc.subjectDouble aneuploidyen_US
dc.subjectDown syndromeen_US
dc.titleDouble aneuploidy: A case of trisomy 21 with XYY [Çift An?ploidi: XYY'li Trizomi 21 Olgusu]en_US
dc.typeArticleen_US

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