Article
[Comprehensive analysis of changes in critical chromosomal regions and the development of DNA-diagnosis protocols].
Vestnik Rossiiskoi akademii meditsinskikh nauk - 1 Jan 2001
Zaletaev D V, Nemtsova M V
Abstract excerpt
A number of genetic syndromes and cancer are caused by chromosomal microstructural rearrangements. It is sometimes impossible to detect this pathology microscopically. A complex of molecular methods makes it possible to detect subchromosomal deletions, point mutations, and functional anomalies on the respective genes, which cause a disease. Achievements of comprehensive analysis have been demonstrated in cases of...
Topics
- Angelman Syndrome
- Chromosome Deletion
- Chromosomes, Human, 6-12 and X
- Chromosomes, Human, Pair 15
- Fragile X Syndrome
- Humans
- Molecular Diagnostic Techniques
- Mutation
- Neoplasms
- Prader-Willi Syndrome
- Sequence Analysis, DNA