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

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.