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Related Experiment Videos

Partial trisomy 22q with elevated arylsulfatase-A activity.

J P Fryns, J Jaeken, H van den Berghe

    Annales De Genetique
    |January 1, 1979
    PubMed
    Summary
    This summary is machine-generated.

    This study reports a case of 22q trisomy in a child with severe intellectual disability. Elevated arylsulfatase-A enzyme activity was observed, suggesting a gene dosage effect in autosomal imbalance.

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    Area of Science:

    • Genetics
    • Biochemistry
    • Medical Genetics

    Background:

    • 22q trisomy is a rare chromosomal abnormality.
    • Arylsulfatase-A (ARSA) is an enzyme encoded by a gene on chromosome 22.
    • Gene dosage effects can occur in autosomal imbalances.