A constitutional bws‐related t(11;16) chromosome translocation occurring in the same region of chromosome 16 implicated in wilms' tumors
- 1 January 1995
- journal article
- research article
- Published by Wiley in Genes, Chromosomes and Cancer
- Vol. 12 (1) , 1-7
- https://doi.org/10.1002/gcc.2870120102
Abstract
Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder with a varying spectrum of clinical manifestations including macroglossia, omphalocele, hemihypertrophy, and a predisposition to a subset of embryonal tumors, most frequently Wilms' tumor (WT). A variety of cytogenetic, genetic linkage, and molecular mapping data implicate a gene or genes on chromosome band 11p15.5 in BWS and its related tumors. However, some families with BWS do not show linkage to 11p15, and other alterations have been found in Wilms' tumors as well. One such alteration is loss of heterozygosity (LOH) for chromosome arm 16q. Here we have analyzed a balanced t(11;16)(p15;q13) chromosomal translocation associated with the BWS phenotype and mapped the breakpoint positions for both chromosomes 11 and 16 by using somatic cell hybrids and polymorphic markers. The chromosome 11 breakpoint was found to lie distal to the D11S12 locus, but proximal to TH on 11p15.5, a region shown previously to contain other BWS-related chromosomal events. The chromosome 16 breakpoint was distal to D16S290 in 16q13, but proximal to loci D16S265, D16S267, and D16S164 in band 16q21. This area encompasses the region of LOH occurring through mitotic recombination in sporadic WT. This raises interesting possibilities for the genetic and epigenetic involvement of both chromosomal regions (11p15 and 16q13) in the pathogenesis of BWS and Wilms' tumor.Keywords
This publication has 22 references indexed in Scilit:
- Molecular Sublocalization and Characterization of the 11;22 Translocation Breakpoint in a Malignant Rhabdoid TumorGenomics, 1994
- Six dinucleotide repeat polymorphisms on human chromosome 16q12.1 – q24.1Human Molecular Genetics, 1993
- Molecular characterization of cytogenetic alterations associated with the Beckwith — Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprintedHuman Molecular Genetics, 1993
- IGF2 is parentally imprinted during human embryogenesis and in the Beckwith–Wiedemann syndromeNature Genetics, 1993
- Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumourNature, 1993
- Loss of heterozygosity mapping in Wilms tumor indicates the involvement of three distinct regions and a limited role for nondisjunction or mitotic recombinationGenes, Chromosomes and Cancer, 1992
- Isolation and characterisation of (AC)n microsatellite genetic markers from human chromosome 16Genomics, 1992
- Suppression of Tumorigenicity in Wilms Tumor by the p15.5-p14 Region of Chromosome 11Science, 1991
- Familial predisposition to Wilms' tumour does not map to the short arm of chromosome 11Nature, 1988
- Chromosomal localization of the human rhabdomyosarcoma locus by mitotic recombination mappingNature, 1987