Partial trisomy 22q with elevated arylsulfatase-A activity.
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.
D002553:Cerebroside-Sulfatase / Q000235:genetics / Q000378:metabolism*; D002675:Child, Preschool; D002874:Chromosome Mapping; D002904:Chromosomes, Human, 21-22 and Y; D006801:Humans; D008607:Intellectual Disability / Q000201:enzymology* / Q000235:genetics; D008297:Male; D013429:Sulfatases / Q000378:metabolism*; D014314:Trisomy
D013429:Sulfatases; D002553:Cerebroside-Sulfatase