Investigation of the aetiopathogenesis of amelogenesis imperfecta through microscopic, submicroscopic and cytogenetic methods--a case report

J Oral Rehabil. 1988 Mar;15(2):149-62. doi: 10.1111/j.1365-2842.1988.tb00764.x.


A case of hypomineralized type of amelogenesis imperfecta has been evaluated by using microscopic, submicroscopic and cytogenetic techniques. It has been observed that some of the enamel contained hydroxyapatite crystals and showed normal mineralization, but some others consisted of transparent, crystal plates of octacalcium phosphate, revealing that these enamel prisms have hypomature characteristics. Extra chromosomes which belong to D-autosomes were found in the culture obtained from the peripheral blood of the patient, suggesting that the patient has 15% hyperdiploids. It is suggested that the structural disorders in some of the enamel prisms resulted from alterations in the environmental conditions related to chromosome anomalies.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amelogenesis Imperfecta / etiology*
  • Amelogenesis Imperfecta / genetics
  • Amelogenesis Imperfecta / pathology
  • Calcium Phosphates
  • Chromosome Aberrations / blood
  • Chromosome Disorders
  • Chromosomes, Human, 13-15
  • Durapatite
  • Humans
  • Hydroxyapatites
  • Karyotyping
  • Male
  • Microscopy, Electron, Scanning


  • Calcium Phosphates
  • Hydroxyapatites
  • octacalcium phosphate
  • Durapatite