Summary
Report of the case of a boy, presently 9 years old, who showed symptoms of an 18p- syndrome, which was proven cytogenetically to be a Klinefelter syndrome with 18/21 translocation. The chromosome examination was conducted with the G-banding technique. The findings according to the nomenclature of the “Paris Conference” of 1971 are: 46,XY, +(X),t(18qter→cen→21qter).
Zusammenfassung
Es wird über einen jetzt 9 Jahre alten Knaben berichtet, bei dem die Symptome eines 18p-Syndroms bestehen und cytogenetisch ein Klinefelter-Syndrom mit 18/21-Translokation nachgewiesen wurde. Die Untersuchung der Chromosomen erfolgte mit der G-Banden-Technik. Bei Benutzung der Nomenklatur der “Paris Conference” 1971 heißt der Befund: 46,XY,+(X),t(18qter→cen→21qter).
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Professor W. Hirsch died on Febr. 8, 1974.
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Waldenmaier, C., Hirsch, W., König, E. et al. Identification of a 18/21 translocation with Klinefelter's syndrome by G-band patterns. Hum Genet 21, 323–329 (1974). https://doi.org/10.1007/BF00273370
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DOI: https://doi.org/10.1007/BF00273370