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Case Reports
. 1992 Jul 15;43(5):872-6.
doi: 10.1002/ajmg.1320430524.

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

M C Phelan  1 , G R Thomas, R A Saul, R C Rogers, H A Taylor, D A Wenger, H E McDermid
Affiliations
Case Reports

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

M C Phelan et al. Am J Med Genet. .

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.

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