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Am J Med Genet. 1992 Jul 15;43(5):872-6.

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

Author information

  • 1Greenwood Genetic Center, South Carolina 29646.

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.

PMID:
1353666
[PubMed - indexed for MEDLINE]
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