GENRE WIDE ANALYSIS IN A DISCORDANT MONOZYGOTIC TWIN WITH CAUDAL APPENDAGE AND MULTIPLE CONGENITAL ANOMALIES

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dc.contributor.authorCogulu, O.
dc.contributor.authorPariltay, E.
dc.contributor.authorKoroglu, O. A.
dc.contributor.authorAykut, A.
dc.contributor.authorOzyurek, R.
dc.contributor.authorLevent, E.
dc.contributor.authorKultursay, N.
dc.contributor.authorÖzkınay, Ferda
dc.date.accessioned2019-10-27T21:42:13Z
dc.date.available2019-10-27T21:42:13Z
dc.date.issued2013
dc.departmentEge Üniversitesien_US
dc.description.abstractGenome wide analysis in a discordant monozygotic twin with caudal appendage and multiple congenital anomalies: Caudal appendage is a rare dysmorphic feature of which etiologic mechanisms are not well understood. Here we report monozygotic (MZ) twin brothers who are discordant for the caudal appendage and multiple congenital anomalies. Twins were the product of a 33 weeks of gestation, monochorionic-diamniotic pregnancy. On admission the proband had micrognathia, beaked nose, hypospadias, caudal appendage and juxtaductal aorta coarctation. At birth, he was small for gestational age and he had transient hypothyroidism which was detected in the newborn period. Karyotype analysis showed 46,XY. Monozygosity was shown by 15 microsatellite markers plus amelogenin (AmpFlSTR (R) Identifier (R) PCR Amplification Kit, Applied Biosystems). Genome-wide copy number analysis of the twins by DNA-DNA hybridization of whole genomic DNA (NimbleGen Human CGH 385K WG-T v2.0 array) showed a significant difference at two neighboring probes with Log2 ratio: 0.72088 which are located on chromosome 3p12.3. Further analysis by high resolution of chromosome 3 array (Roche NimbleGen Human HG18 CHR3 FT Median Probe Spacing 475 bp) and quantitative PCR analysis did not confirm the deletion.en_US
dc.identifier.endpage91en_US
dc.identifier.issn1015-8146
dc.identifier.issue1en_US
dc.identifier.pmid23610870en_US
dc.identifier.startpage85en_US
dc.identifier.urihttps://hdl.handle.net/11454/46848
dc.identifier.volume24en_US
dc.identifier.wosWOS:000337196900012en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
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.subjectHuman tailen_US
dc.subjectWhole genome analysisen_US
dc.subjectMonozygotic twinsen_US
dc.titleGENRE WIDE ANALYSIS IN A DISCORDANT MONOZYGOTIC TWIN WITH CAUDAL APPENDAGE AND MULTIPLE CONGENITAL ANOMALIESen_US
dc.typeArticleen_US

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