Abstract
Beckwith-Wiedemann syndrome (BWS), characterized by multiorgan developmental abnormalities and predisposition to cancer, usually occurs sporadically, but small apparently dominant pedigrees have been described. Since rare patients show varying karyotypic abnormalities on the short arm of chromosome 11, it has been suggested that BWS may be related to the Wilms tumor gene on 11p13 or, alternatively, to growth factor genes on 11p15. We performed genetic linkage analysis on two BWS kindreds, using RFLPs for loci on 11p. BWS was linked to the insulin gene (11p15.5), with an overall maximum lod score of 3.60 (recombination fraction = .00). Linkage to D11S16 (11p13) could be excluded for recombination fractions ≤.03. These results suggest that BWS defines a tumor-predisposition gene on 11p15.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 720-723 |
| Number of pages | 4 |
| Journal | American journal of human genetics |
| Volume | 44 |
| Issue number | 5 |
| State | Published - 1989 |
| Externally published | Yes |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)