Detection of an Unbalanced T(4;15) by Fish in a Child With Multiple Congenital Anomalies

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dc.contributor.authorCelep, Figen
dc.contributor.authorAcar, H.
dc.contributor.authorAynacı, O.
dc.contributor.authorAynacı, F. M.
dc.contributor.authorKaragüzel, A.
dc.date.accessioned2020-03-26T16:37:01Z
dc.date.available2020-03-26T16:37:01Z
dc.date.issued2001
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractDetection of an unbalanced t(4; 15) by FISH in a child with multiple congenital anomalies: In this report, we present the clinical history and findings in a 6-month-old male with multiple congenital anomalies, developmental delay, and an initial male karyotype with 4q+. The origin of the additional segment on 4q was unequivocally established by fluorescence in situ hybridization (FISH). Whole chromosome probe for chromosome 4 and chromosome 15-specific a-satellite probe were used. The karyotype was demonstrated to be 46,XY,der(4), t(4;15) (q35;?), inv(9)(p13q13). To the best of our knowledge the above cytogenetic abnormalities with these clinical findings have not been described previously. This case further demonstrates the advantage of FISH in the identification of anomalous chromosome regions and breakpoints.en_US
dc.identifier.citationCelep, F., Acar, H., Aynacı, O., Aynacı, F. M., Karagüzel, A., (2001). Detection of an Unbalanced T(4;15) by Fish in a Child With Multiple Congenital Anomalies. Genetic Counseling, 12(4), 319-326.
dc.identifier.endpage326en_US
dc.identifier.issn1015-8146en_US
dc.identifier.issue4en_US
dc.identifier.pmid11837600en_US
dc.identifier.startpage319en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12395/17516
dc.identifier.volume12en_US
dc.identifier.wosWOS:000173238500002en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
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/closedAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectchromosome 4en_US
dc.subjectchromosome 15en_US
dc.subjectunbalanced translocationsen_US
dc.subjectfluorescence in situ hybridizationen_US
dc.titleDetection of an Unbalanced T(4;15) by Fish in a Child With Multiple Congenital Anomaliesen_US
dc.typeArticleen_US

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