Article
The emerging genetic theories of unstable DNA, uniparental disomy, and imprinting.
Current opinion in obstetrics & gynecology - 1 Apr 1993
Wilkins-Haug L
Abstract excerpt
Usually, genetic diseases segregate in a stable, predictable fashion throughout a family. For many inherited disorders, a mutation at the DNA level has been characterized, and prenatal diagnosis is available. Recently, however, the dogma of traditional mendelian inheritance has been challenged by the discovery of new patterns of gene segregation and expression. Unstable DNA segments varying in size have been...
Topics
- Chromosome Aberrations
- Chromosome Disorders
- Chromosome Mapping
- DNA
- Female
- Fragile X Syndrome
- Gene Deletion
- Gene Expression
- Genes, Recessive
- Genetic Diseases, Inborn
- Genotype
- Humans
- Karyotyping
- Male
- Mutation
- Phenotype
- Prenatal Diagnosis
