Related Experiment Videos
Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion
M C Phelan1, G R Thomas, R A Saul
1Greenwood Genetic Center, South Carolina 29646.
American Journal of Medical Genetics
|July 15, 1992
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.