title: High-resolution chromosome banding and fragile site studies in von Hippel-Lindau syndrome.
abstract: von Hippel-Lindau syndrome is an autosomal dominant disorder that predisposes to the development of benign and malignant tumors. The gene for von Hippel-Lindau syndrome has not yet been localized and the cytogenetics of this cancer-prone genetic disease have not been fully explored. Therefore, we did high-resolution chromosome banding of lymphocytes from patients from 14 kindreds with von Hippel-Lindau syndrome. There were 18 patients (eight male, and ten female). None of the male patients showed a detectable chromosome abnormality. However, three of the ten female patients had 45,X/46,XX/47,XXX chromosome mosaicism with predominance of the normal cell line. Fragile sites at 10q25 and 16q22 were found but both segregated independently of von Hippel-Lindau syndrome. The location of this disease gene, thus, is still unknown. The tendency to chromosome mosaicism manifest in this study suggests that there is a possible error in controlling somatic chromosome division and that error in mitosis may be causally related to the predisposition to tumor formation in von Hippel-Lindau syndrome.
authors.affiliation: Department of Nephrology and Hypertension, Freiburg im Breisgau, West Germany.
authors.forename: H P
authors.initials: HP
authors.lastname: Neumann
authors.forename: W
authors.initials: W
authors.lastname: Schempp
authors.forename: T F
authors.initials: TF
authors.lastname: Wienker
mesh_terms: D000328:Adult; D000798:Angiomatosis / Q000235:genetics*; D002871:Chromosome Banding; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D005260:Female; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008875:Middle Aged; D009030:Mosaicism; D010375:Pedigree; D006623:von Hippel-Lindau Disease / Q000235:genetics*
chemical_list: D005819:Genetic Markers