title: Genomic instability associated with limb defects: case report and review of the literature.
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.
authors.affiliation: Western General Hospital, Edinburgh, UK.
authors.forename: C M
authors.initials: CM
authors.lastname: Brewer
authors.forename: E
authors.initials: E
authors.lastname: Grace
authors.forename: G D
authors.initials: GD
authors.lastname: Stark
authors.forename: D W
authors.initials: DW
authors.lastname: Gregory
authors.forename: R T
authors.initials: RT
authors.lastname: Howell
authors.forename: D R
authors.initials: DR
authors.lastname: Fitzpatrick
mesh_terms: D002869:Chromosome Aberrations; D002873:Chromosome Fragility; D004260:DNA Repair / Q000235:genetics; D006197:Hair / Q000002:abnormalities / Q000648:ultrastructure; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D017880:Limb Deformities, Congenital; D008297:Male; D008854:Microscopy, Electron