Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion.
We report on a 3-year-old boy with a terminal deletion of 22q. The activity of alpha-N-acetylgalactosaminidase was normal while arylsulfatase A activity was reduced. Molecular analysis demonstrated the lack of paternal alleles of D22S45 and D22S55.
Phelan
M C
MC
Greenwood Genetic Center, South Carolina 29646.
Thomas
G R
GR
Saul
R A
RA
Rogers
R C
RC
Taylor
H A
HA
Wenger
D A
DA
McDermid
H E
HE
D000015:Abnormalities, Multiple / Q000201:enzymology / Q000235:genetics*; D000483:Alleles; D002553:Cerebroside-Sulfatase / Q000378:metabolism; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D005347:Fibroblasts / Q000201:enzymology; D006596:Hexosaminidases / Q000378:metabolism; D006801:Humans; D008297:Male; D048809:alpha-N-Acetylgalactosaminidase
D002553:Cerebroside-Sulfatase; D006596:Hexosaminidases; C482722:NAGA protein, human; D048809:alpha-N-Acetylgalactosaminidase