title: Spontaneous chromosomal anomalies in lymphocytes from xeroderma pigmentosum. A study of ten patients.
abstract: A cytogenetic study of the lymphocytes from 6 classic and 4 variant forms of xeroderma pigmentosum is reported. This study performed on 978 R-banded metaphases shows that there is no specific chromosomal rearrangement in this disorder. In UDS-deficient forms, the rates of deletions, chromatid gaps and chromosome gaps are significantly increased. The preferential involvement of G-bands is discussed.
authors.affiliation: Structure et Mutagenèse Chromosomiques, CNRS UA 620, Paris.
authors.forename: R
authors.initials: R
authors.lastname: Aledo
authors.forename: M F
authors.initials: MF
authors.lastname: Avril
authors.forename: B
authors.initials: B
authors.lastname: Dutrillaux
authors.forename: A
authors.initials: A
authors.lastname: Aurias
mesh_terms: D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002874:Chromosome Mapping; D006801:Humans; D008214:Lymphocytes / Q000648:ultrastructure; D014178:Translocation, Genetic; D014983:Xeroderma Pigmentosum / Q000235:genetics*