Summary
The techniques of H3-thymidine autoradiography, C and G bandings were utilized for the identification of an extra “C” chromosome in a patient with 47,XX,+C complement. The abnormal element was found to be an additional homolog of 8 pair. The clinical findings of this patient were compared with those cases that have been reported in the literature as 8 trisomies. A few more such cases must be studied before trisomy 8 syndrome can be established.
Zusammenfassung
Die Techniken der H3-Thymidin-Autoradiographie sowie der C- und G-banding-Methode wurden für die Identifizierung eines zusätzlichen C-Chromosoms bei einem Patienten mit einem Chromosomensatz von 47,XX,+C herangezogen. Das abnorme Chromosom stellt ein zusätzliches Homolog des Chromosomenpaares 8 dar. Die klinischen Befunde beim Patienten werden mit anderen Fällen, die in der Literatur beschrieben worden sind, verglichen. Bevor jedoch das Trisonomie 8-Syndrom charakterisiert werden kann, sind weitere Beobachtungen erforderlich.
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References
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Kakati, S., Nihill, M. & Sinha, A.K. An attempt to establish trisomy 8 syndrome. Hum Genet 19, 293–300 (1973). https://doi.org/10.1007/BF00278406
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DOI: https://doi.org/10.1007/BF00278406