Summary
We report a previously undescribed case of a de novo balanced translocation t(5;13)(q11;p11) and Franceschetti syndrome in a 3-year-old girl. The hypothesis that this unusual association might not be coincidental but rather due to position effect is proposed. Moreover the significant decrease of hexosaminidase B activity suggests the localization of this gene on the 5q11 band.
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Balestrazzi, P., Baeteman, M.A., Mattei, M.G. et al. Franceschetti syndrome in a child with a de novo balanced translocation (5;13)(q11;p11) and significant decrease of hexosaminidase B. Hum Genet 64, 305–308 (1983). https://doi.org/10.1007/BF00279420
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DOI: https://doi.org/10.1007/BF00279420