Terminal 22q deletion associated with a partial deficiency of arylsulphatase A. |
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| Authors: | K Narahara Y Takahashi M Murakami K Tsuji Y Yokoyama R Murakami S Ninomiya Y Seino |
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| Affiliation: | Department of Pediatrics, Okayama University Medical School, Japan. |
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| 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. |
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