Learning objectives
At the end of this course the student should have a good knowledge and comprehension of the following topics:
The construction of pedigrees and their analysis
The limits of the genetic tests
The new technologies in genetic diagnosis
The genetic counseling
The causes and mechanisms of the more common chromosomal pathologies
Once acquired this background, the student should be able to perform the following activities:
Evaluate the genetic risk in families
Use the genetic tests in a correct way
Communicate a risk figure in the context of genetic counseling
Prerequisites
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Course unit content
This course treats of the application of medical genetics in pediatrics, starting from pedigree analysis to the new molecular technologies. The aim i sto arrive to a correct definition of a risk figure in families and to a correct communication of the risk in the context of genetic counseling
Full programme
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Bibliography
Thompson & Thompson Genetics in Medicine Nussbaum RL McInnes RR Willard HF eds, Saudrs Elsevier pub., Philadelphia 2007
Teaching methods
Oral lectures integrated with discussion of medical cases from the literature where genetic competences play a critical role in making a correct diagnosis
Assessment methods and criteria
The achievement of the objectives is evaluated with a oral examination in the context of the integrate course
Other information
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