Article
Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype.
American journal of medical genetics. Part A - 15 Oct 2008
South Sarah T, Whitby Heidi, Maxwell Teresa, Aston Emily, Brothman Arthur R, Carey John C
Abstract excerpt
Paternal duplications of chromosome region 11p15 can result in Beckwith-Weidemann syndrome (BWS), whereas maternal duplications of the same region on 11p15 can result in Russell-Silver syndrome (RSS). These two syndromes have numerous opposing phenotypes, especially with regards to growth parameters. The differences in the phenotype are proposed to be due to altered dosage of imprinted genes that control growth...
Topics
- Abnormalities, Multiple
- Adult
- Beckwith-Wiedemann Syndrome
- Child
- Child, Preschool
- Chromosome Aberrations
- Chromosome Banding
- Chromosome Deletion
- Chromosome Painting