The quantitative expression of GALT and galactose utilization have been investigated in two patients with 9p deletion. Case 1 had a distal deletion of the band 9p22→pter, while case 2 had an interstitial deletion of the region 9p133→p23. In the former patient GALT activity and galactose utilization were found to be normal: in the latter decreased GALT activity and a significant decrease of galactose utilization were present. The above findings suggest that the GALT locus is in the 9p21 band.
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