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J Med Genet 29:432-433 doi:10.1136/jmg.29.6.432
  • Research Article

Terminal 22q deletion associated with a partial deficiency of arylsulphatase A.

  1. K Narahara,
  2. Y Takahashi,
  3. M Murakami,
  4. K Tsuji,
  5. Y Yokoyama,
  6. R Murakami,
  7. S Ninomiya,
  8. Y Seino
  1. Department of Pediatrics, Okayama University Medical School, Japan.

      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.