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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
1992-7-31
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pubmed:abstractText |
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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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
0022-2593
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pubmed:author |
|
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pubmed:issnType |
Print
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pubmed:volume |
29
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
432-3
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pubmed:dateRevised |
2010-9-7
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pubmed:meshHeading |
pubmed-meshheading:1352356-Cerebroside-Sulfatase,
pubmed-meshheading:1352356-Chromosome Deletion,
pubmed-meshheading:1352356-Chromosome Mapping,
pubmed-meshheading:1352356-Chromosomes, Human, Pair 22,
pubmed-meshheading:1352356-Dihydrolipoamide Dehydrogenase,
pubmed-meshheading:1352356-Female,
pubmed-meshheading:1352356-Humans,
pubmed-meshheading:1352356-Infant,
pubmed-meshheading:1352356-Karyotyping
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pubmed:year |
1992
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pubmed:articleTitle |
Terminal 22q deletion associated with a partial deficiency of arylsulphatase A.
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pubmed:affiliation |
Department of Pediatrics, Okayama University Medical School, Japan.
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pubmed:publicationType |
Journal Article,
Review,
Case Reports
|
