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  • Title: Partial trisomy 22q with elevated arylsulfatase-A activity.
    Author: Fryns JP, Jaeken J, van den Berghe H.
    Journal: Ann Genet; 1979; 22(3):168-70. PubMed ID: 43111.
    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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