Demonstration of heterogeneity in xeroderma pigmentosum

Arch Dermatol Res. 1980;269(1):81-5. doi: 10.1007/BF00404461.

Abstract

Two cases of xeroderma pigmentosum were studied at the cytogenetic and molecular level. DNA repair impairment was revealed in case 1 by a nucleoid sedimentation technique whereas a half diminished rate of DNA repair could be demonstrated in case 2. This may be a further case of a xeroderma pigmentosum variant.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • DNA Repair / radiation effects
  • Humans
  • Karyotyping
  • Lymphocytes / radiation effects
  • Male
  • Mitosis / radiation effects
  • Neoplasms, Radiation-Induced / diagnosis*
  • Skin Neoplasms / diagnosis*
  • Skin Neoplasms / genetics
  • Ultraviolet Rays / adverse effects
  • Xeroderma Pigmentosum / diagnosis*
  • Xeroderma Pigmentosum / genetics