Demonstration of heterogeneity in xeroderma pigmentosum.
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.
D002675:Child, Preschool; D004260:DNA Repair / Q000528:radiation effects; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000528:radiation effects; D008297:Male; D008938:Mitosis / Q000528:radiation effects; D009381:Neoplasms, Radiation-Induced / Q000175:diagnosis*; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000235:genetics; D014466:Ultraviolet Rays / Q000009:adverse effects; D014983:Xeroderma Pigmentosum / Q000175:diagnosis* / Q000235:genetics