Terminal 22q deletion associated with a partial deficiency of arylsulphatase A.
A 7 month old girl with psychomotor retardation, hypotonia, and minor malformations was found to have a terminal deletion of the long arm of chromosome 22, del(22)(q13.31). The partial deficiency of arylsulphatase A (ARSA) and the normal level of NADH diaphorase 1 (DIA1) suggests that the ARSA locus can be regionally assigned to 22q13.31----qter and the DIA1 locus can be excluded from the same segment. This report is the third published case with a terminal 22q deletion.
Department of Pediatrics, Okayama University Medical School, Japan.
K
K
Narahara
Y
Y
Takahashi
M
M
Murakami
K
K
Tsuji
Y
Y
Yokoyama
R
R
Murakami
S
S
Ninomiya
Y
Y
Seino
D002553:Cerebroside-Sulfatase / Q000172:deficiency* / Q000235:genetics; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22; D008058:Dihydrolipoamide Dehydrogenase / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping
D008058:Dihydrolipoamide Dehydrogenase; D002553:Cerebroside-Sulfatase