Article
[Current advances in the cytogenetics and molecular biology of the diagnosis of malformation syndromes].
La Pediatria medica e chirurgica : Medical and surgical pediatrics - 1 Jan 2000
Dallapiccola B, Mingarelli R, Zelante L
Abstract excerpt
Consistent progress has been obtained in recent years in the diagnosis and understanding of genetic disease. High resolution chromosome analysis has narrowed the gap between cytogenetics and Mendelism by proving that some diseases considered to be due to monogenic inheritance result in fact from...
Topics
- Chromosome Aberrations
- Congenital Abnormalities
- Genetic Diseases, Inborn
- Humans
- Mutation
- Syndrome
- Translocation, Genetic