Clinical Implications of Chromosome 16 Copy Number Variation

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dc.authoridGürkan, Hakan/0000-0002-8967-6124
dc.authoridatli, emine ikbal/0000-0001-9003-1449
dc.authoridDemir, Selma/0000-0002-0964-5513
dc.authorwosidGürkan, Hakan/AAF-2866-2020
dc.authorwosidatli, emine ikbal/AAN-5060-2020
dc.authorwosidDemir, Selma/A-1500-2018
dc.contributor.authorAtli, Emine Ikbal
dc.contributor.authorYalcintepe, Sinem
dc.contributor.authorAtli, Engin
dc.contributor.authorDemir, Selma
dc.contributor.authorMail, Cisem
dc.contributor.authorGurkan, Hakan
dc.date.accessioned2024-06-12T11:08:28Z
dc.date.available2024-06-12T11:08:28Z
dc.date.issued2022
dc.departmentTrakya Üniversitesien_US
dc.description.abstractChromosome 16 is one of the gene-rich chromosomes; however, approximately 10% of the chromosome 16 sequence is composed of segmental copies, which renders this chromosome instable and predisposes it to rearrangements via frequent nonallelic homologous recombination. Microarray technologies have enabled the analysis of copy number variations (CNV), which may be associated with the risk of developing complex diseases. Through comparative genomic hybridisation in 1,298 patients, we detected 18 cases with chromosome 16 CNV. We identified 2recurrent CNV regions, including 1 at 16p13.11 in 4 patients and another at 16p11.2 in 7 patients. We also detected atypical chromosome 16 rearrangements in 7 patients. Furthermore, we noted an increased frequency of co-occurring genomic changes, supporting the two-hit hypothesis to explain the phenotypic variability in the clinical presentation of CNV syndromes. Our findings can contribute to the creation of a chromosome 16 disease map based on regions that may be associated with disease development.en_US
dc.identifier.doi10.1159/000517762
dc.identifier.endpage192en_US
dc.identifier.issn1661-8769
dc.identifier.issn1661-8777
dc.identifier.issue3en_US
dc.identifier.pmid35707588en_US
dc.identifier.scopus2-s2.0-85121441815en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage184en_US
dc.identifier.urihttps://doi.org/10.1159/000517762
dc.identifier.urihttps://hdl.handle.net/20.500.14551/22450
dc.identifier.volume13en_US
dc.identifier.wosWOS:000730742800001en_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.subjectMicrodeletion Syndromeen_US
dc.subjectMicroduplication Syndromeen_US
dc.subjectMolecular Cytogeneticsen_US
dc.subjectArray CGHen_US
dc.subjectClinical Heterogeneityen_US
dc.subjectCopy Number Variationen_US
dc.subject16p11.2 Deletionen_US
dc.subjectGeneen_US
dc.subjectPhenotypesen_US
dc.subjectAutismen_US
dc.subjectRearrangementsen_US
dc.subjectMicrodeletionen_US
dc.subjectDuplicationsen_US
dc.subjectDisordersen_US
dc.subjectVariantsen_US
dc.titleClinical Implications of Chromosome 16 Copy Number Variationen_US
dc.typeArticleen_US

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