Abstract
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.
Publication types
-
Case Reports
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Acetylglucosaminidase / deficiency
-
Child, Preschool
-
Chromosome Banding
-
Chromosome Mapping
-
Chromosomes, Human, 13-15*
-
Chromosomes, Human, 4-5*
-
Female
-
Hexosaminidase B
-
Hexosaminidases / deficiency*
-
Humans
-
Mandibulofacial Dysostosis / genetics*
-
Syndrome
-
Translocation, Genetic*
-
beta-N-Acetylhexosaminidases
Substances
-
Hexosaminidases
-
Acetylglucosaminidase
-
Hexosaminidase B
-
beta-N-Acetylhexosaminidases