Gene dosage effect for human triosephosphate isomerase and glyceraldehyde-3-phosphate dehydrogenase in partial trisomy 12p13 and trisomy 18p.
An 8-year-old girl with profound mental retardation and a neurologic syndrome associated with morphologic abnormalities was found to have a supernumerary small submetacentric chromosome. Several members of her family carried a balanced translocation t(12;18)(p12;q11), and the child's karyotype could be explained by 3:1 maternal segregation (tertiary trisomy). The proband was trisomic for 12p13 and 18p. A gene dosage effect was demonstrated for triosephosphate isomerase and glyceraldehyde-3-phosphate in erythrocytes and leukocytes allowing us to assign the corresponding loci to the tip of the chromosome 12 short arm.
D002238:Carbohydrate Epimerases / Q000235:genetics*; D002648:Child; D002902:Chromosomes, Human, 16-18; D002906:Chromosomes, Human, 6-12 and X; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005987:Glyceraldehyde-3-Phosphate Dehydrogenases / Q000097:blood / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007962:Leukocytes / Q000201:enzymology; D014178:Translocation, Genetic; D014305:Triose-Phosphate Isomerase / Q000097:blood / Q000235:genetics*; D014314:Trisomy
D005987:Glyceraldehyde-3-Phosphate Dehydrogenases; D002238:Carbohydrate Epimerases; D014305:Triose-Phosphate Isomerase