title: Case of interstitial 12q deletion in association with Wilms tumor.
abstract: A 14-month-old boy presenting with Wilms tumor (WT) was found to have a small de novo deletion of the long arm of chromosome 12 (12q11-12q13.11). Microsatellite analysis of this region from constitutional DNA showed that the paternal allele was absent between the markers D12S331 and D12S1713 (inclusive). In the WT there was no evidence of loss of the maternal chromosome. Constitutional chromosome abnormalities can often point to the presence of genes that are important in disease, and the deletion of chromosome 12 in this patient may indicate a gene involved in WT. To determine whether a WT predisposition locus exists at 12q we examined the region in two familial Wilms tumor (FWT) pedigrees unlinked to the known FWT genes on chromosomes 17q (FWT1), 19q (FWT2), and 11p (WT1). In both families WT did not segregate with chromosome 12q markers located within the deletion boundaries.
authors.affiliation: Institute of Cancer Research, Section of Cancer Genetics, Haddow Labs, 15 Cotswold Road, Sutton, Surrey, SM6 8RW, UK. lizr@icr.ac.uk
authors.forename: E A
authors.initials: EA
authors.lastname: Rapley
authors.forename: D
authors.initials: D
authors.lastname: Hargrave
authors.forename: N
authors.initials: N
authors.lastname: Persinguhe
authors.forename: R
authors.initials: R
authors.lastname: Barfoot
authors.forename: I
authors.initials: I
authors.lastname: Moore
authors.forename: M
authors.initials: M
authors.lastname: Radford
authors.forename: M R
authors.initials: MR
authors.lastname: Stratton
authors.forename: N
authors.initials: N
authors.lastname: Rahman
authors.forename: K
authors.initials: K
authors.lastname: Pritchard-Jones
mesh_terms: D002872:Chromosome Deletion; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005192:Family Health; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D009396:Wilms Tumor / Q000235:genetics* / Q000473:pathology
chemical_list: D004247:DNA