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  • Title: Deleted ring chromosome 22 in a mentally retarded boy.
    Author: Gustavson KH, Arancibia W, Eriksson U, Svennerholm L.
    Journal: Clin Genet; 1986 Apr; 29(4):337-41. PubMed ID: 2872982.
    Abstract:
    A mentally retarded boy with a ring chromosome 22, where most of band q13 was deleted, is reported. The fact that the leucocyte beta-galactosidase and alpha-galactosidase B activities were normal, but the arylsulphatase A activity only half of the normal is consistent with a gene dosage effect and that the arylsulphatase A locus is located more distally, than the gene loci for the other two enzymes, in the deleted part of 22q13.
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