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Balanced chromosome translocations and abnormal phenotypes. A report of 5 cases

dc.contributor.authorVan Heerden, K. M. M.en_ZA
dc.contributor.authorDe Jong, G.en_ZA
dc.contributor.authorFox, M. F.en_ZA
dc.contributor.authorKotze, G. M.en_ZA
dc.contributor.authorBrusnicky, J.en_ZA
dc.contributor.authorDietzsch, E.en_ZA
dc.contributor.authorGrobbelaar, J. J.en_ZA
dc.contributor.authorRetief, A. E.en_ZA
dc.date.accessioned2011-03-18T14:57:32Z
dc.date.available2011-03-18T14:57:32Z
dc.date.issued1986-6
dc.identifier.citationVan Heerden, K.M.M. et al. 1986. Balanced chromosome translocations and abnormal phenotypes. A report of 5 cases. S Afr Med J, 69(6):825-828.en_ZA
dc.identifier.issn2078-5135 (online)
dc.identifier.issn0256-9574 (print)
dc.identifier.urihttp://hdl.handle.net/10019.1/7482
dc.descriptionCITATION: Van Heerden, K.M.M. et al. 1986. Balanced chromosome translocations and abnormal phenotypes. A report of 5 cases. S Afr Med J, 69(6):825-828.en_ZA
dc.descriptionThe original publication is available at http://www.samj.org.zaen_ZA
dc.description.abstractENGLISH ABSTRACT: Five cases in which phenotypic abnormalities were found in association with apparent balanced chromosomal translocations are described. In 3 patients, one of the parents was found to be carrier of the same translocation. In a further patient, the translocation was shown to be de novo and in the remaining patient the father was not available for chromosome studies. In a review of the literature the breakpoints in 36 familial balanced translocations were compared with 40 de novo translocations (including the present cases) all associated with phenotypic abnormalities. No common translocation was found in these groups, but it was observed that chromosomes 4 and 5 were significantly more involved in de novo translocations than in familial translocations. The possible aetiology and implications for prenatal diagnosis are discussed.en_ZA
dc.description.abstractAFRIKAANSE OPSOMMING: Geen opsomming beskikbaaraf_ZA
dc.format.extent4 pagesen_ZA
dc.language.isoen_ZAen_ZA
dc.publisherHealth & Medical Publishing Groupen_ZA
dc.subjectTranslocation (Genetics)en_ZA
dc.subjectChromosomesen_ZA
dc.subjectPhenotypeen_ZA
dc.titleBalanced chromosome translocations and abnormal phenotypes. A report of 5 casesen_ZA
dc.typeArticleen_ZA
dc.description.versionPublisher’s version
dc.rights.holderSouth African Medical Journalen_ZA


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