Franceschetti syndrome in a child with a de novo balanced translocation (5;13)(q11;p11) and significant decrease of hexosaminidase B

Hum Genet. 1983;64(3):305-8. doi: 10.1007/BF00279420.

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