Article
Holt-Oram syndrome in four half-siblings with unaffected parents: brief clinical report.
Clinical genetics - 1 Apr 1991
Braulke I, Herzog S, Thies U, Zoll B
Abstract excerpt
The Holt-Oram syndrome was diagnosed in four offspring of three mothers and the same unaffected father. One additional child lacked the characteristic clinical features of the Holt-Oram syndrome. In contrast to the general autosomal dominant inheritance with complete penetrance, our observation suggests a paternal mutation, resulting in mosaicism, probably restricted to the germline.
Topics
- Abnormalities, Multiple
- Adolescent
- Child
- Chromosome Aberrations
- Chromosome Disorders
- Female
- Fingers
- Genes, Dominant
- Genetic Carrier Screening
- Hand Deformities, Congenital
- Heart Defects, Congenital