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

Clin Genet. 1984 Jan;25(1):59-62. doi: 10.1111/j.1399-0004.1984.tb00463.x.


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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosome Aberrations / enzymology
  • Chromosome Aberrations / genetics*
  • Chromosome Deletion*
  • Chromosome Disorders
  • Chromosome Mapping
  • Chromosomes, Human, 1-3 / ultrastructure*
  • Female
  • Humans
  • Infant
  • Intellectual Disability / enzymology
  • Intellectual Disability / genetics*
  • Male
  • Phosphogluconate Dehydrogenase / blood
  • Phosphogluconate Dehydrogenase / genetics*


  • Phosphogluconate Dehydrogenase