Deleted ring chromosome 22 in a mentally retarded boy
- 23 April 1986
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 29 (4) , 337-341
- https://doi.org/10.1111/j.1399-0004.1986.tb01264.x
Abstract
A mentally retarded boy with a ring chromosome 22, where most of band q13 was deleted, is reported. The act 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.Keywords
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