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Case Reports
. 1986 Apr;29(4):337-41.
doi: 10.1111/j.1399-0004.1986.tb01264.x.

Deleted ring chromosome 22 in a mentally retarded boy

K H Gustavson, W Arancibia, U Eriksson, L Svennerholm
Case Reports

Deleted ring chromosome 22 in a mentally retarded boy

K H Gustavson et al. Clin Genet. 1986 Apr.

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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