Partial trisomy 22q with elevated arylsulfatase-A activity.

J P Fryns; J Jaeken; H van den Berghe

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PubMed · 43111

Partial trisomy 22q with elevated arylsulfatase-A activity.

J P Fryns·J Jaeken·H van den Berghe

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Abstract

A two years-old, severely mentally retarded male is reported with 22q trisomy. After the recent confirmation of the localisation of arylsulfatase-A (ARSA) on chromosome 22, the elevated activity of this enzyme (about 1,5 times the normal values) in the present patient may be another example of a gene dosage effect in autosomal imbalance.

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J P Fryns, J Jaeken, H van den Berghe. 1979. Partial trisomy 22q with elevated arylsulfatase-A activity.. https://pubmed.ncbi.nlm.nih.gov/43111/

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