ORPHA: 654;
Cytogenetic location: 16q Genomic coordinates (GRCh38): 16:36,800,001-90,338,345
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 16q | Wilms tumor, type 3 | 194090 | Autosomal dominant | 2 |
For a general phenotypic description and a discussion of genetic heterogeneity of Wilms tumor, see WT1 (194070).
With loss of heterozygosity studies, Maw et al. (1992) concluded that a third Wilms tumor locus (WT3) is on 16q. In addition to loss on chromosome 11p (11 of 25 informative Wilms tumors), there was significant loss on 16q (9 of 45 informative tumors), while the total frequency of allele loss excluding these loci was low (9 of 426 total informative loci). They screened loci on 33 autosomal arms. The parental origin of the lost chromosome 16q allele was paternal in 4 and maternal in 4 sporadic tumors tested. Thus, unlike chromosome 11p, alleles of either parental origin are lost on 16q.
Maw, M. A., Grundy, P. E., Millow, L. J., Eccles, M. R., Dunn, R. S., Smith, P. J., Feinberg, A. P., Law, D. J., Paterson, M. C., Telzerow, P. E., Callen, D. F., Thompson, A. D., Richards, R. I., Reeve, A. E. A third Wilms' tumor locus on chromosome 16q. Cancer Res. 52: 3094-3098, 1992. [PubMed: 1317258]