Genomic instability associated with limb defects: case report and review of the literature

Clin Dysmorphol. 1997 Apr;6(2):99-109.

Abstract

We report a child in whom we observed markedly increased genome-wide spontaneous chromosomal breakage in both leucocytes and fibroblasts associated with severe growth retardation, radial aplasia, leucopenia, mild hydrocephalus and an unusual trichodystrophy. Exposure to DNA cross-linking agents diepoxybutane, mitomycin-C and mustine hydrochloride in this case did not result in the increased chromosome breakage seen in Fanconi anaemia. It may be that this child has a defect in postreplicative DNA repair interacting with the protein components deficient in FA.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Chromosome Aberrations*
  • Chromosome Fragility
  • DNA Repair / genetics
  • Hair / abnormalities
  • Hair / ultrastructure
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Limb Deformities, Congenital*
  • Male
  • Microscopy, Electron