De Novo Subtelomeric 6p25.3 Deletion with Duplication of 6q23.3-q27: Genotype-Phenotype Correlation

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dc.authoridatli, emine ikbal/0000-0001-9003-1449
dc.authoridGürkan, Hakan/0000-0002-8967-6124
dc.authorwosidATLI, Engin/AAY-4641-2021
dc.authorwosidatli, emine ikbal/AAN-5060-2020
dc.authorwosidGürkan, Hakan/AAF-2866-2020
dc.contributor.authorAtli, Emine Ikbal
dc.contributor.authorGurkan, Hakan
dc.contributor.authorAtli, Engin
dc.contributor.authorVatansever, Ulfet
dc.contributor.authorAcunas, Betul
dc.contributor.authorMail, Cisem
dc.date.accessioned2024-06-12T10:59:07Z
dc.date.available2024-06-12T10:59:07Z
dc.date.issued2020
dc.departmentTrakya Üniversitesien_US
dc.description.abstractDuplications of 6q and deletions of 6p have been reported in more than 30 cases of live born infants and given rise to widespread abnormalities recognizable as a specific clinical syndrome. Different phenotypes have been described with variable clinical signs. Most cases involve the coexistence of unbalanced translocations affecting one or the other of the chromosomes. However, duplication of both chromosome 6q and deletion of 6p regions have been reported in only a few cases. Here, we report the first duplication of chromosome band 6q23.3-q27 with deletion of 6p25.3. This is the first case in the literature involving changes to these specific chromosomal regions; a medium size duplication of the distal long arm and smaller deletion of the terminal short arm of chromosome 6. In the literature, there are no other cases where these two specific chromosomal aberrations are observed together. Conventional chromosome analysis was performed to investigate the patient. Chromosome structure was identified using fluorescence in situ hybridization for subtelomeric regions of chromosome 6 and array comparative genomic hybridization analysis (array-CGH).en_US
dc.identifier.doi10.1055/s-0039-1694703
dc.identifier.endpage39en_US
dc.identifier.issn2146-4596
dc.identifier.issn2146-460X
dc.identifier.issue1en_US
dc.identifier.pmid31976141en_US
dc.identifier.startpage32en_US
dc.identifier.urihttps://doi.org/10.1055/s-0039-1694703
dc.identifier.urihttps://hdl.handle.net/20.500.14551/20321
dc.identifier.volume9en_US
dc.identifier.wosWOS:000508582700005en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherGeorg Thieme Verlag Kgen_US
dc.relation.ispartofJournal Of Pediatric Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectCytogeneticsen_US
dc.subjectFluorescence In Situ Hybridizationen_US
dc.subjectChromosome 6en_US
dc.subjectArray-CGHen_US
dc.subject6p Deletionen_US
dc.subject6qen_US
dc.subjectTranslocationen_US
dc.subjectAbnormalitiesen_US
dc.subjectTrisomyen_US
dc.subjectOriginen_US
dc.titleDe Novo Subtelomeric 6p25.3 Deletion with Duplication of 6q23.3-q27: Genotype-Phenotype Correlationen_US
dc.typeArticleen_US

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