Deficiency of chromosome 8p21.1----8pter: case report and review of the literature

Am J Med Genet. 1985 Sep;22(1):125-34. doi: 10.1002/ajmg.1320220114.


The clinical manifestations and cytogenetic changes of a patient with 46,XY,del(8)(p21.1) are compared with those of nine other patients with a similar deficiency of chromosome 8. Patients with this chromosome anomaly have a syndrome of postnatal growth retardation, microcephaly, mental retardation, epicanthal folds, posteriorly angulated and malformed ears, short neck, relatively increased internipple distance, and congenital heart defect. A short and broad nose, a wide and flat nasal bridge, and a small jaw are observed in young patients but tend to become less apparent with increasing age. In most instances, the syndrome has been associated with a de novo chromosome abnormality. Levels of glutathione reductase in our patient were normal-a finding consistent with localization of the gene coding for this enzyme to the proximal part of band 8p21.1 if gene dosage studies are reliable.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / enzymology
  • Abnormalities, Multiple / genetics*
  • Chromosome Deletion*
  • Chromosomes, Human, 6-12 and X*
  • Erythrocytes / enzymology
  • Face / abnormalities
  • Glutathione Reductase / blood
  • Glutathione Reductase / genetics
  • Growth Disorders / genetics
  • Heart Defects, Congenital / genetics
  • Humans
  • Infant
  • Male
  • Syndrome


  • Glutathione Reductase