A Rare Case of Mosaic Unbalanced Non-Robertsonian Translocation Involving Chromosomes 15 and 22 with Congenital Abnormalities in Monozygotic Twins

Basit Öğe Kaydı
dc.authoridGürkan, Hakan/0000-0002-8967-6124
dc.authoridatli, emine ikbal/0000-0001-9003-1449;
dc.authorwosidGürkan, Hakan/AAF-2866-2020
dc.authorwosidatli, emine ikbal/AAN-5060-2020
dc.authorwosidATLI, Engin/AAY-4641-2021
dc.contributor.authorAtli, Emine I.
dc.contributor.authorAtli, Engin
dc.contributor.authorYalcintepe, Sinem
dc.contributor.authorGurkan, Hakan
dc.date.accessioned2024-06-12T10:58:33Z
dc.date.available2024-06-12T10:58:33Z
dc.date.issued2020
dc.departmentTrakya Üniversitesien_US
dc.description.abstractBalanced de novo non-robertsonian translocations (non-RTs), which involve acrocentric chromosomes, are rare findings in clinical cytogenetics and may be associated with an abnormal phenotype. These translocations, detected by conventional karyotyping, are found in approximately 1:1,000 neonates. In most of these cases, one of the parents carries the same translocation. In this study, we report a rare non-RT involving chromosomes 15 and 22 defined as 45,XX,-22,der(15;22)t(15;22)/46,XX,der(15)t(15;22),der(22). To our knowledge, this is the first report of a non-RT t(15;22) with these breakpoints.en_US
dc.identifier.doi10.1159/000505004
dc.identifier.endpage326en_US
dc.identifier.issn1661-8769
dc.identifier.issn1661-8777
dc.identifier.issue6en_US
dc.identifier.pmid32021606en_US
dc.identifier.scopus2-s2.0-85077450901en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage320en_US
dc.identifier.urihttps://doi.org/10.1159/000505004
dc.identifier.urihttps://hdl.handle.net/20.500.14551/20093
dc.identifier.volume10en_US
dc.identifier.wosWOS:000508845700005en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherKargeren_US
dc.relation.ispartofMolecular Syndromologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectCopy Number Variationsen_US
dc.subjectDeletion Syndromeen_US
dc.subjectDysmorphologyen_US
dc.subjectFISHen_US
dc.subjectGenotype-Phenotype Correlationen_US
dc.subjectMosaicismen_US
dc.subjectArray CGHen_US
dc.subjectAutismen_US
dc.subjectChromosomal Microarray Analysisen_US
dc.subject22q11.2 Deletionen_US
dc.subjectDigeorge-Syndromeen_US
dc.subjectFeaturesen_US
dc.subjectChilden_US
dc.titleA Rare Case of Mosaic Unbalanced Non-Robertsonian Translocation Involving Chromosomes 15 and 22 with Congenital Abnormalities in Monozygotic Twinsen_US
dc.typeArticleen_US

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayınlar Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu