Terminal 22q deletion associated with a partial deficiency of arylsulphatase A.
Open Access
- 1 June 1992
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 29 (6), 432-433
- https://doi.org/10.1136/jmg.29.6.432
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.Keywords
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