MEDICAL GENETICS
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The objective of the course of Medical Genetics will be to provide to the students the basis of the knowledge of the genic and chromosomal mechanisms that could explain human pathologies
Mendel’s laws. Linkage theory
Humans pedigrees: study and analysis.
Chromosome structure
Genic and chromosomal mutations. Mechanisms of formation and conseguences.
The techniques of Medical Genetics in pre and post natal diagnosis: conventional cytogenetics, molecular cytogenetics, aCGH and molecular analysis, Phoetal circulant DNA.
Chromosomal sex determination
Medical genetics of pathologies related to sex chromosomes
Medical genetics of Down’s, Edwards’ and Patau’s Syndrome
Uniparental disomy and genomic imprinting. Genetic consequences and examples of some related syndomes.
Fragiel X Syndrome
Huntington’s disease
Stem cells and regenerative medicine
Introducion to tumor’s genetics
Didactical laboratories
- E. S. Tobias, M Connor, M. Ferguson-Smith - Fondamenti di Genetica Medica – Pearson
- L. Tiepolo, U. Laudani: Le basi biologiche dell’ereditarietà - 3° ed. Editore La Goliardica Pavese