title: Constitutional interstitial deletion of 11p11 and pericentric inversion of chromosome 9 in a patient with Wiedemann-Beckwith syndrome and hepatoblastoma.
abstract: A constitutional interstitial deletion on the short arm of chromosome #11 and an inversion of the heterochromatin of chromosome #9 were detected in a 1.5-year-old boy with Wiedemann-Beckwith syndrome (WBS) and hepatoblastoma. Of 37 malignant and nine benign neoplasms reported in approximately 250 cases with complete and incomplete forms of WBS, this is the fourth patient with hepatoblastoma. To date, 28 cases of WBS have been cytogenetically investigated with banding techniques. Constitutional anomalies have been found in only nine cases: Various anomalies resulting in a common triplication of the 11p15 region in six cases, reciprocal translocations t(11;22) and t(X;1) and an inversion of chromosome #2 in the three remaining cases. Triplication 11p15 was only present in one of four cases with a tumor. The breakpoints of the unique del(11)(p11.1p11.2) present in our case are proximal to those of del(11p13-11p14) and dup(11p15) observed thus far in both the aniridia-Wilms' tumor association and in WBS. Inversion of chromosome #9--one of the heterochromatin variants associated with elevated chromosomal instability, increased congenital abnormalities, and cancer proneness--may have been causally connected with a genetic imbalance resulting in the de novo deletion of 11p11. Therefore, we suggest that in these high-risk groups, C-banding studies should be performed together with high resolution chromosome analysis in order to also reveal the incidence and significance of C-band variants in individuals with such cancer prone syndromes.
mesh_terms: D001506:Beckwith-Wiedemann Syndrome / Q000150:complications / Q000235:genetics*; D006528:Carcinoma, Hepatocellular / Q000150:complications / Q000235:genetics*; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D002880:Chromosomes, Human, Pair 11; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008113:Liver Neoplasms / Q000150:complications / Q000235:genetics*; D008297:Male