Eprenatal diagnosis of a new case: de novo balanced non-obertsonian translocation involving

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dc.contributor.authorAtli, E., I. (Trakya author)
dc.contributor.authorGurkan, H.
dc.contributor.authorTozkir, H.
dc.contributor.authorVarol, G. F.
dc.contributor.authorInan, C.
dc.date.accessioned2019-06-24T07:17:18Z
dc.date.available2019-06-24T07:17:18Z
dc.date.issued2018
dc.departmentFakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Anabilim Dalıen_US
dc.description.abstractThe balanced non-Robertsonian translocation (ROB) associated with acrocentric chromosomes is an unusual phenomenon. We report the case of rare non-ROB involving chromosomes 15 and 22 with cytogenetic and molecular cytogenetic findings of 46, XY, t(15;22)(p11.2;q11.2). To the best of our knowledge, t(15;22) is the first report of this breakpoint that is not the usual non-ROB. The karyotype of the chorionic villus cell was 46, XY, t(15;22)(p11.2;q11.2) from two different initial cultures. This is different from the usual non-ROB of acrocentric chromosomes. Comparative genomic hybridization has been performed to determine the chromosomal origin. Non-Robertsonian translocation associated with acrocentric chromosomes is an unusual event and only a few cases have been reported. In this study, we observed acrocentric chromosomes 15 and 22 as a rarely balanced non-ROB, where satellites of chromosome 15 translocated to chromosome 22 and part of chromosome 22 were translocated to chromosome 15. To the best of our knowledge, our patient is the first case reported in the literature for this translocation in prenatal and postnatal periods.en_US
dc.identifier.citationAtli, E. İ., Gurkan, H., Atli, E., Tozkir, H., Varol, G. F., & İnan, C. (2018). Prenatal diagnosis of a new case: De novo balanced non-Robertsonian translocation involving t (15; 22)(p11. 2; q11. 2). Balkan Journal of Medical Genetics, 21(2), 69-72.en_US
dc.identifier.endpage72en_US
dc.identifier.issue2en_US
dc.identifier.startpage69en_US
dc.identifier.urihttps://hdl.handle.net/20.500.14551/4167
dc.identifier.volume21en_US
dc.indekslendigikaynakWeb fo Sciencesen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherMacedonian Acad Sciences Artsen_US
dc.relation.ispartofJournal Citation Reportsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.snmz20240608_ID_Qen_US
dc.subjectArray Comparative Genomic Hybridization (Array-CGH)en_US
dc.subjectChorion Villus Sampling (CVS)en_US
dc.subjectCytogeneticsen_US
dc.subjectFluorescence In Situ Hybridization (FISH)en_US
dc.subjectNon-Robertsonian Translocation (Non-ROB)en_US
dc.titleEprenatal diagnosis of a new case: de novo balanced non-obertsonian translocation involvingen_US
dc.typeArticleen_US

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