A constitutional bws‐related t(11;16) chromosome translocation occurring in the same region of chromosome 16 implicated in wilms' tumors
作者:
Irene Newsham,
Andrea Kindler‐Röhrborn,
Douglas Daub,
Webster Cavenee,
期刊:
Genes, Chromosomes and Cancer
(WILEY Available online 1995)
卷期:
Volume 12,
issue 1
页码: 1-7
ISSN:1045-2257
年代: 1995
DOI:10.1002/gcc.2870120102
出版商: Wiley Subscription Services, Inc., A Wiley Company
数据来源: WILEY
摘要:
AbstractBeckwith‐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 toTHon 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' tu
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