Deleted ring chromosome 22 in a mentally retarded boy.
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.
Gustavson
K H
KH
Arancibia
W
W
Eriksson
U
U
Svennerholm
L
L
D000293:Adolescent; D002553:Cerebroside-Sulfatase / Q000235:genetics*; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002904:Chromosomes, Human, 21-22 and Y; D005819:Genetic Markers; D006596:Hexosaminidases / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009006:Monosomy; D012303:Ring Chromosomes; D013429:Sulfatases / Q000235:genetics*; D048809:alpha-N-Acetylgalactosaminidase; D001616:beta-Galactosidase / Q000235:genetics
D005819:Genetic Markers; D013429:Sulfatases; D002553:Cerebroside-Sulfatase; D006596:Hexosaminidases; D001616:beta-Galactosidase; C482722:NAGA protein, human; D048809:alpha-N-Acetylgalactosaminidase