Summary
Gene marker analyses have been carried out in a patient with 10q(q23→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→q23).
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Sparkes, R.S., Bass, H.N. & Sparkes, M.C. 10q(q23→qter) duplication: GOTs, HK1, and other gene markers. Hum Genet 42, 267–270 (1978). https://doi.org/10.1007/BF00291306
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DOI: https://doi.org/10.1007/BF00291306