10q(q23 leads to qter) duplication: GOTs, HK1, and other gene markers.
Gene marker analyses have been carried out in a patient with 10q(q23 leads to qter) duplication. The observed elevation of red cell glutamic oxaloacetic transaminase activity is compatible with earlier somatic cell hybridization studies that mapped the locus to this region. Hexokinase-1 activity in the red cells was normal,which is consistent with its prior assignment to the unaffected part of chromosome 10(10pter leads to q23).
D000328:Adult; D001219:Aspartate Aminotransferases / Q000235:genetics*; D002874:Chromosome Mapping; D002906:Chromosomes, Human, 6-12 and X; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005796:Genes; D006593:Hexokinase / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D014314:Trisomy
D001219:Aspartate Aminotransferases; D006593:Hexokinase