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- Title
Terminal 22q deletion associated with a partial deficiency of arylsulphatase A.
- Authors
Narahara, K; Takahashi, Y; Murakami, M; Tsuji, K; Yokoyama, Y; Murakami, R; Ninomiya, S; Seino, Y
- Abstract
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.
- Publication
Journal of medical genetics, 1992, Vol 29, Issue 6, p432
- ISSN
0022-2593
- Publication type
Journal Article
- DOI
10.1136/jmg.29.6.432