Clinical, chromosomal and enzymatic studies in four cases of rearrangements of chromosome 7.
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.
D001123:Argininosuccinate Lyase / Q000235:genetics; D002648:Child; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002906:Chromosomes, Human, 6-12 and X; D008058:Dihydrolipoamide Dehydrogenase / Q000235:genetics; D005347:Fibroblasts / Q000648:ultrastructure; D005966:Glucuronidase / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008214:Lymphocytes / Q000648:ultrastructure; D014314:Trisomy
D008058:Dihydrolipoamide Dehydrogenase; D005966:Glucuronidase; D001123:Argininosuccinate Lyase