Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion

Am J Med Genet. 1992 Jul 15;43(5):872-6. doi: 10.1002/ajmg.1320430524.

Abstract

We report on a 3-year-old boy with a terminal deletion of 22q. The activity of alpha-N-acetylgalactosaminidase was normal while arylsulfatase A activity was reduced. Molecular analysis demonstrated the lack of paternal alleles of D22S45 and D22S55.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / enzymology
  • Abnormalities, Multiple / genetics*
  • Alleles
  • Cerebroside-Sulfatase / metabolism
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22*
  • Fibroblasts / enzymology
  • Hexosaminidases / metabolism
  • Humans
  • Male
  • alpha-N-Acetylgalactosaminidase

Substances

  • Cerebroside-Sulfatase
  • Hexosaminidases
  • NAGA protein, human
  • alpha-N-Acetylgalactosaminidase