The level of 6‐phosphogluconate dehydrogenase (6‐PGD) activity in a patient with a 1p terminal deletion suggests that the gene locus is not distal to sub‐band p36.3 on chromosome 1

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Abstract
A rare case of chromosome 1p deletion is reported in a mentally retarded male infant with a derived chromosome: 45,XY,-1,-13,tdic(1;13)(1qter .fwdarw. 1p36.2::13p11.2 .fwdarw. 13qter). Parental chromosomes were normal. Since the patient''s 6-PGD [6-phosphogluconate dehydrogenase] specific activity was in the normal range, he probably retained both 6-PGD alleles. If a dosage affect exists, then the locus for 6-PGD must be proximal to 1p36.3.