1/5. Unbalanced translocation of chromosome 3p in Wilms' tumor.Genetic studies in Wilms' tumor have most commonly shown a deletion involving band 13 on the p arm of chromosome 11 in association with aniridia. Structural rearrangements of chromosome 3p have been found in carcinoma of renal cell and lung origin but have not been previously reported in Wilms' tumors. We present two phenotypically normal, unrelated patients with Wilms' tumors, one of which was bilateral, in which cytogenetic analysis of the tumors showed an unbalanced translocation of the p arm of chromosome 3. Two biopsies were done in the patient with bilateral Wilms' tumor. The first biopsy specimen showed a translocation between chromosome 3 and 13 with partial trisomy of 3p and loss of material from 13q. The second biopsy three and a half months later again showed trisomy of chromosome 3p. The unilateral Wilms' tumor showed trisomy of 3p with partial loss of 7p. Neither patient showed a constitutional chromosomal abnormality and neither tumor showed any cytogenetic abnormality involving chromosome 11p. Quantitative dna analysis was performed in the tumors of both patients. The bilateral Wilms' tumor was nearly diploid with a dna index of 1.284 (mean ploidy, 2.45; SD, 0.854) while the unilateral Wilms' tumor was aneuploid with a dna index of 1.531 (mean ploidy, 3.35; SD, 0.976). dna analysis results are discussed in relationship to the chromosome abnormality seen on the karyotype analysis. These cytogenetic findings suggest that genetic oncogenesis in Wilms' tumor is heterogenous.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/5. aniridia--Wilms' tumour association--a case with 11p 13-14.1 deletion and ventricular septal defect.A two year old female child with bilateral wilms tumor (WT) along with multiple congenital anomalies like bilateral aniridia with congenital cataracts and nystagmus, microcephaly, mental retardation and ventricular septal defect has been described. The karyotype analysis revealed 46 xx, del 11p 13-14.1. association of ventricular septal defect with the classical features of 'aniridia-Wilms' tumor association' is an unusual feature in this case.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
3/5. A highly complex rea(2;3;11) and aniridia by position effect.A two-year-old boy presenting with bilateral aniridia and psychomotor retardation had a de novo (2;3;11) highly complex rearrangement which was characterized as far as possible by means of G-banding and FISH assays with multiple probes including cosmids for the Wilms, aniridia, Genital anomalies and Retardation (WAGR) region, alphoid repeats for chromosomes 2, 3 and 11, subtelomere probes for 2p/2q, 3p/3q and 11q and BACs for 2q32 and 3q13. We identified approximately 15 breakpoints with at least three interchromosomal and three intrachromosome anomalies involving chromosome 11. Both parents had normal karyotypes and no cryptic 11p rearrangements revealed by the chromosome 11 cosmid panel. The lack of a deletion of PAX6 pointed to the direct insertion of an approximately 300-kb segment involving the cosmids FO2121 and AO4160, and more specifically the insertion's proximal breakpoint in the approximately 150-kb segment between FO2121 and FAT5 (PAX6), as the responsible factor for the patient's aniridia via a position effect resulting in functional haploinsufficiency of the PAX6 gene. This case illustrates the importance of recognizing that de novo complex chromosomal rearrangements found in patients with diverse clinical features may contribute to the phenotype, but that multiple mechanisms and higher levels of complexity may be unmasked by high resolution molecular cytogenetic studies.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
4/5. Ambiguous genitalia, gonadoblastoma, aniridia and mental retardation with deletion of chromosome 11.We describe a patient with ambiguous genitalia, gonadoblastoma, aniridia, mental retardation and 46XY, del (11)(p13) karyotype. To our knowledge this association has been observed in only 2 patients to date.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
5/5. An unusual cystic lesion histologically similar to autosomal dominant polycystic kidney disease in a child with aniridia and del 11p13.The association of wilms tumor with an interstitial deletion on the short arm of chromosome 11 is well established. Specifically, the 11p13 band has been implicated in the syndrome of wilms tumor, aniridia, genitourinary abnormalities and mental retardation. Only rarely have other renal lesions been associated with the chromosomal abnormality del 11p13. We report a case of a segmental cystic lesion, histologically akin to autosomal dominant polycystic kidney disease, in a child with aniridia and the del (11)(p12p14) karyotype.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |