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Transcript
MEDICAL GENETICS
YEAR 6
HARVEY COURSE
The student is supposed to learn how to deal with a disease to recognize if it is
genetically detemined or not, how to do counselling, how to collaborate with
clinicians caring for the patiens, how to deal with reproductive problems of
the family.
The program will include the following topics:
1- examples of genetic couselling derived from personal experience of the
teacher;
2- a monogenic disorder to be used as a model for mendelian inheritance
(from the diagnosis to therapy);
3- diseases related to chromosomal abnormalities;
4- genetics of a malformation
5- developmental delay
Reference textbooks
 New Clinical Genetics, by Andrew Read, Dian Donnai
 Practical Genetic Counselling 7th Edition: Peter S. Harper:
 Oxford desk reference clinical genetics
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