Article
Genetics.
Seminars in pediatric surgery - 1 Aug 2010
de Klein Annelies, Tibboel Dick
Abstract excerpt
For many years karyotyping has been a successful tool to identify chromosome aberrations in congenital malformations. It has proven to be a highly reliable technique for identifying numerical chromosome changes and structural chromosomal rearrangements, such as deletions, duplications, translocations, or inversions. However, karyotyping has limited resolution of 5-10 Mb and depends on the availability of...
Topics
- Chromosome Aberrations
- Congenital Abnormalities
- Female
- Forecasting
- Genetic Association Studies
- Genetic Predisposition to Disease
- Genetic Testing
- Genome, Human
- Humans
- Incidence
- Karyotyping
- Male