Case of interstitial 12q deletion in association with Wilms tumor

A 14-month-old boy presenting with Wilms tumor (WT) was found to have a sma ll de novo deletion of the long arm of chromosome 12 (12q11-12q13.11). Micr osatellite analysis of this region from constitutional DNA showed that the paternal allele was absent between the markers D12S331 and D12S1713 (inclus ive). In the WT there was no evidence of loss of the maternal chromosome. C onstitutional chromosome abnormalities can often point to the presence of g enes that are important in disease, and the deletion of chromosome 12 in th is patient may indicate a gene involved in WT. To determine whether a WT pr edisposition locus exists at 12q we examined the region in two familial Wil ms 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 w ith chromosome 12q markers located within the deletion boundaries. (C) 2001 Wiley-Liss.