Eighteen of the 21 cytogenetically examined tumors (86%) had a detectable anomaly of chromosome arm 3p distal to band 3p11.2-p13, manifested as a deletion, combined with the nonreciprocal translocation of a segment from another chromosome or monosomy 3. (1999) found that the break was distal to the von Hippel-Lindau syndrome gene (VHL; 608537), removing marker D3S18 and the CALL gene (CHL1; 607416).The authors suggested that deletion of 1 copy of the CALL gene might be responsible for mental defects in patients with 3p- … Two tumors previously reported to harbor TFE3 gene fusions also exhibited VHL mutation, chromosome 3p loss, and morphology indistinguishable from … The signs and symptoms vary. 3p deletion syndrome is caused by the deletion of the end of the small (p) arm of chromosome 3. LOH analyses using microsatellite markers for regions of common deletions at 3p may be of value in differential diagnosis of kidney … Loss of 3p from 3p13-3pter is observed in more than 96% of sporadic and hereditary RCCs. Deletion of 3p is the only karyotypic finding in 15% of non-PRCCs and in RCCs as small as 1 mm. Renal cell carcinoma (RCC) and normal kidney tissues have been examined from 34 patients with sporadic, nonhereditary RCC. We aimed to evaluate the clinical utility of 3p fluorescence in situ hybridization (FISH) on formalin-fixed paraffin-embedded tissue in surgical pathology specimens. Abstract. Renal cell carcinoma (RCC) and normal kidney tissues have been examined from 34 patients with sporadic, nonhereditary RCC. Extensive losses were not found in non-clear-cell tumours except for collecting duct carcinomas; 1 of 10 papillary RCCs showed interstitial deletion limited to a single 3p21.3 locus. 3p deletion syndrome is a rare chromosome disorder characterized by a missing (deleted) part of the short arm of chromosome 3 (known as 3p). The loss of DNA sequences on chromosome 3p is one of the primary and most common events in the pathogenesis of CCRCC. Some affected people appear to have no features or mild features, but most have been more severely affected.

613792 - CHROMOSOME 3pter-p25 DELETION SYNDROME - 3p- SYNDROME In a boy with 3p- syndrome, Angeloni et al. Chromosome 3p deletion is a well-established genetic aberration in clear cell renal cell carcinoma (RCC). Chromosome 3p Alterations. 3p deletion syndrome is a condition that often results in intellectual disability, developmental delay, and abnormal physical features. 3p:3q <0.8 was established as the cut-off for 3p …