Summary
A sporadic translocation between two homologues of chromosome 15 was identified, by means of the quinacrine mustard fluorescence technique, in a phenotypically normal female infant with ventricular septal defect. Familial studies revealed certain individual variations regarding the intensely fluorescent centromeric regions in chromosomes 3 and 13, which appeared to be transmitted from the parents to offspring.
Zusammenfassung
Eine sporadische Translokation zwischen zwei homologen Chromosomen Nr. 15 wurde mit Hilfe der Quinacrine-Mustard-Fluorescenztechnik bei einem weiblichen Säugling mit Ventrikelseptumdefekt festgestellt, der sonst phänotypisch normal war. Familienuntersuchungen ergaben gewisse individuelle Varianten der Zentromerregion in den Chromosomen 3 und 13, und es wurde eine Vererbung von den Eltern auf ihre Kinder festgestellt.
Familienberatungen ergaben gewisse individuelle Variationen der intensiv fluorescierenden Zentromerregion.
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Contributions from the Chromosome Research Unit, Faculty of Science, Hokkaido University, Sapporo, Japan. Supported by grants, No. 584099, and No. 92035, from the Scientific Research Fund of the Ministry of Education.
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Yoshida, M.C., Nomoto, N. & Sasaki, M. Quinacrine fluorescence patterns in somatic chromosomes of a t(15q15q) carrier. Hum Genet 15, 66–70 (1972). https://doi.org/10.1007/BF00273432
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DOI: https://doi.org/10.1007/BF00273432