From: In silico regulatory analysis for exploring human disease progression
Syndrome | Occurrence of Wilms tumor | Chromosomal abnormality | Ref. |
---|---|---|---|
WAGR | 98% by age 6 | Deletion at 11p13 | OMIM: #194072 |
Beckwith- Wiedemann | 96% by age 8 | Duplication of paternal 11p15. May result in increased gene expression(IGF2) or inactivation(p57). | OMIM: #130650 |
Denys-Drash | 96% by age 5 | Missense mutation in WT1 (11p13 locus) causing dominant negative phenotype. | OMIM: #194080 |