Abstract
We report here four cases of unbalanced chromosomal rearrangements involving partial monosomies and trisomies of chromosome 7. The quantitative expression of diaphorase 2 (DIA-2), beta-glucuronidase (GUS-beta) and argino-succinate-lyase (ASL) were measured in these patients and compared with controls. The results suggest that the DIA-2 locus is in the band 7p221----q21, the GUS-beta locus in the band 7p22----q21 and the ASL locus in the band 7p221----q22.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Argininosuccinate Lyase / genetics
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Child
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Chromosome Banding
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Chromosome Deletion*
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Chromosome Mapping
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Chromosomes, Human, 6-12 and X*
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Dihydrolipoamide Dehydrogenase / genetics
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Fibroblasts / ultrastructure
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Glucuronidase / genetics
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Humans
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Infant
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Infant, Newborn
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Lymphocytes / ultrastructure
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Trisomy*
Substances
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Dihydrolipoamide Dehydrogenase
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Glucuronidase
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Argininosuccinate Lyase