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Deleted ring chromosome 22 in a mentally retarded boy
Author(s) -
Gustavson K.H.,
Arancibia W.,
Eriksson U.,
Svennerholm L.
Publication year - 1986
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1986.tb01264.x
Subject(s) - mentally retarded , locus (genetics) , ring chromosome , gene , genetics , long arm , ring (chemistry) , chromosome , enzyme , biology , karyotype , chemistry , psychology , biochemistry , developmental psychology , organic chemistry
A mentally retarded boy with a ring chromosome 22, where most of band q13 was deleted, is reported. The fact that the leucocyte β‐galactosidase and a‐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.