Abstract
Quinacrine stained human chromosomes fluoresce with distinctive patterns when exposed to UV light. These patterns are detectable visually in high contrast photographs of metaphase figures and permit the identification of each chromosome.
A variety of cases with translocation chromosomes have been studied by this method in our laboratories and the chromosomes involved identified with much greater accuracy than previously possible. Included are the following translocations: (3p−; 18q+), (5p−; 14q+), (5p+; 10q−) [preliminary], (13q13q), (13q14q), (14q21q), and (21q21q). The fluorescence patterns are distinctive enough, for instance, to differentiate the t(14q21q) from the C-group chromosomes and a t(13q13q) from the chromosomes no. 3.
This method now provides a rapid means for distinguishing cytologically between t(21q21q) and t(21q22q). Also, of significance is the relative ease with which the 14q+ chromosome in the cells with a t(5p−; 14q+) can be recognized. That a D-group chromosome was involved in this translocation was previously shown only with great effort (deCapoa et al. Am. J. Hum. Genet. 19 586, 1967). It should now be possible to differentiate more readily between the several possible abnormal karyotypes and the normal one in the progeny of such a translocation carrier.
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Breg, W., Miller, D., Allderdice, P. et al. Identification of human translocation chromosomes by quinacrine fluorescence patterns. Pediatr Res 5, 423 (1971). https://doi.org/10.1203/00006450-197108000-00219
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DOI: https://doi.org/10.1203/00006450-197108000-00219