The level of 6-phosphogluconate dehydrogenase (6-PGD) activity in a patient with 1p terminal deletion suggests that the gene locus is not distal to sub-band p36.3 on chromosome 1.
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----1p36.2::13p11.2----++ +13qter). Parental chromosomes were normal. Since the patient's 6-PGD specific activity was in the normal range, it is probable that he retained both 6-PGD alleles. Consequently, if a dosage affect exists, then the locus for 6-PGD must be proximal to 1p36.3.
D000328:Adult; D002869:Chromosome Aberrations / Q000201:enzymology / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002900:Chromosomes, Human, 1-3 / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000201:enzymology / Q000235:genetics*; D008297:Male; D010734:Phosphogluconate Dehydrogenase / Q000097:blood / Q000235:genetics*
D010734:Phosphogluconate Dehydrogenase