Franceschetti syndrome in a child with a de novo balanced translocation (5;13)(q11;p11) and significant decrease of hexosaminidase B.
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.
D000118:Acetylglucosaminidase / Q000172:deficiency; D002675:Child, Preschool; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002901:Chromosomes, Human, 13-15; D002905:Chromosomes, Human, 4-5; D005260:Female; D054819:Hexosaminidase B; D006596:Hexosaminidases / Q000172:deficiency*; D006801:Humans; D008342:Mandibulofacial Dysostosis / Q000235:genetics*; D013577:Syndrome; D014178:Translocation, Genetic; D001619:beta-N-Acetylhexosaminidases
D006596:Hexosaminidases; D000118:Acetylglucosaminidase; D054819:Hexosaminidase B; D001619:beta-N-Acetylhexosaminidases