PMID- 8946193 OWN - NLM STAT- MEDLINE DCOM- 19970303 LR - 20090929 IS - 1045-2257 (Print) IS - 1045-2257 (Linking) VI - 17 IP - 3 DP - 1996 Nov TI - Localization of a novel t(1;7) translocation associated with Wilms' tumor predisposition and skeletal abnormalities. PG - 151-5 AB - Cytogenetic analysis of predisposition syndromes has played a critical role in the elucidation of the genetics of Wilms' tumor (WT). Therefore, we became interested in a patient who presented with a WT and a nephrogenic rest in the contralateral kidney (suggestive of a predisposition) and a de novo t(1;7)(q42;p15) constitutional translocation as the only visible cytogenetic abnormality. He also had bilateral radial aplasia and other skeletal abnormalities, but there was no manifestation of any syndrome previously associated with WT. In the tumor, the translocation was retained, and the other 7p region was lost by the formation of an isochromosome i(7q). Here, we report the localization of the chromosome 7 breakpoint within a yeast artificial chromosome (YAC) contig by using fluorescence in situ hybridization (FISH), localizing the breakpoint between markers sWSS355 and sWSS1449. A number of YACs span the breakpoint and, thus, contain the region that is disrupted by the translocation. This may represent the site of a novel tumor suppressor gene that is involved in WT and also in normal renal development. FAU - Reynolds, P A AU - Reynolds PA AD - Department of Pathology and Microbiology, School of Medical Sciences, Bristol, United Kingdom. FAU - Powlesland, R M AU - Powlesland RM FAU - Keen, T J AU - Keen TJ FAU - Inglehearn, C F AU - Inglehearn CF FAU - Cunningham, A F AU - Cunningham AF FAU - Green, E D AU - Green ED FAU - Brown, K W AU - Brown KW LA - eng GR - Wellcome Trust/United Kingdom PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Genes Chromosomes Cancer JT - Genes, chromosomes & cancer JID - 9007329 SB - IM MH - Bone and Bones/*abnormalities MH - Chromosomes, Artificial, Yeast MH - *Chromosomes, Human, Pair 7 MH - Genes, Wilms Tumor/*genetics MH - Humans MH - In Situ Hybridization, Fluorescence MH - Kidney/chemistry MH - Kidney Neoplasms/*genetics MH - Male MH - *Translocation, Genetic MH - Wilms Tumor/*genetics EDAT- 1996/11/01 00:00 MHDA- 2000/06/20 09:00 CRDT- 1996/11/01 00:00 PHST- 1996/11/01 00:00 [pubmed] PHST- 2000/06/20 09:00 [medline] PHST- 1996/11/01 00:00 [entrez] AID - 10.1002/(SICI)1098-2264(199611)17:3<151::AID-GCC2>3.0.CO;2-3 [pii] AID - 10.1002/(SICI)1098-2264(199611)17:3<151::AID-GCC2>3.0.CO;2-3 [doi] PST - ppublish SO - Genes Chromosomes Cancer. 1996 Nov;17(3):151-5. doi: 10.1002/(SICI)1098-2264(199611)17:3<151::AID-GCC2>3.0.CO;2-3.