Article
The beta-subunit of follicle-stimulating hormone is deleted in patients with aniridia and Wilms' tumour, allowing a further definition of the WAGR locus.
Nature - 1 Jan 2000
Glaser T, Lewis W H, Bruns G A, Watkins P C, Rogler C E, Shows T B, Powers V E, Willard H F, Goguen J M, Simola K O
Abstract excerpt
One in 10,000 children develops Wilms' tumour, an embryonal malignancy of the kidney. Although most Wilms' tumours are sporadic, a genetic predisposition is associated with aniridia, genito-urinary malformations and mental retardation (the WAGR syndrome). Patients with this syndrome typically exhibit constitutional deletions involving band p13 of one chromosome 11 homologue. It is likely that these deletions...
Topics
- Adult
- Alleles
- Catalase
- Child
- Chromosome Deletion
- Chromosome Mapping
- Chromosomes, Human, 6-12 and X
- DNA
- DNA Restriction Enzymes
- Deoxyribonucleases, Type II Site-Specific