The presentation of mendelian traits and the notion of genetical basics are given. The DI GEORGE syndrome caused by a deletion in 22q11 is described as well as a monogenic disorder, the FRIEDREICH'S ataxia.
|Translated title of the contribution||Genetical principles of inheritance. 1. Inheritance, mutations and definitions|
|Number of pages||8|
|Publication status||Published - 09.2010|
Research Areas and Centers
- Research Area: Medical Genetics