A Partial Trisomy 15q Due to 15;17 Translocation Detected by Conventional Cytogenetic and Fish Techniques

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dc.contributor.authorCora, T.
dc.contributor.authorAcar, H.
dc.contributor.authorOran, B.
dc.date.accessioned2020-03-26T16:36:11Z
dc.date.available2020-03-26T16:36:11Z
dc.date.issued2000
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractWe report a case having multiple abnormalities including the simultaneous presence of the heart defect and central nerve system abnormalities, which has been reported in a few cases, and with a partial trisomy 15q. Partial trisomy 15q has been inherited from a balanced translocation carried by his phenotypically normal father, detected by traditional banding and fluorescence in situ hybridization (FISH). Application of FISH using whole chromosome specific library probes, locus specific and repetitive probes allowed us to detect the translocation between chromosomes 15q and 17q. Simultaneous application of probes revealed the position of the translocation. interestingly, in addition to the chromosomes 15 pericentromeric signals, the use of chromosome 15 beta-satellite III probe demonstrated an extra signal on chromosome 14 in both metaphase, and lighted three signals interphase nuclei which was inherited from his father. This patient is compared with other partial trisomy 15q patients reported in the literature. The results are also discussed in relation to genetic counselling for the possible relation of chromosome abnormality and clinical findings.en_US
dc.identifier.citationOran, B., Acar, H., Cora, T., (2000). A Partial Trisomy 15q Due to 15;17 Translocation Detected by Conventional Cytogenetic and Fish Techniques. Genetic Counseling, 11(1), 25-32.
dc.identifier.endpage32en_US
dc.identifier.issn1015-8146en_US
dc.identifier.issue1en_US
dc.identifier.pmid10756424en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage25en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12395/17177
dc.identifier.volume11en_US
dc.identifier.wosWOS:000086860500006en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorCora, T.
dc.institutionauthorAcar, H.
dc.institutionauthorOran, B.
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/openAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectpartial trisomy 15qen_US
dc.subjectcytogeneticsen_US
dc.subjectFıshen_US
dc.titleA Partial Trisomy 15q Due to 15;17 Translocation Detected by Conventional Cytogenetic and Fish Techniquesen_US
dc.typeArticleen_US

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