Teaching code

0783M

Teacher

Alberto Turco

Coordinator

Alberto Turco

Credits

1

Language

Italian

Scientific Disciplinary Sector (SSD)

MED/03 - MEDICAL GENETICS

Period

2° semestre dal Feb 17, 2025 al May 30, 2025.

Courses Single

Not Authorized

Lessons timetable Moodle Seminars 0

Learning objectives

To provide the student with the first rudimentary skills and knowledge of clinical genetics and genetic counseling, embedded in the reality of real paradigmatic clinical cases, with all the differential diagnostic problems, information to the family, informed consent, in a complex and multidisciplinary clinical context and setting. Cases of presymptomatic genetic investigations, congenital chromosomal malformation, prenatal genetic diagnosis with option to terminate the affected pregnancy, embryo sexing for severe X-linked disease, and mitochondrial genetic disease will be analyzed.

Prerequisites and basic notions

not required

Program

Introduction to the main rules of postnatal and prenatal genetic counseling: for example, non-directivity. Invasive prenatal diagnosis (amniocentesis, CVS, cordocentesis, fetoscopy). Polyploidy and abortion. Vanishing twin. Linkage diagnosis of ARPKD (autosomal recessive polycystic kidney disease). Testicular hypotrophy and Klinefelter syndrome. Presymptomatic genetic test in ADPKD (autosomal Dominant Polycystic Kidney Disease). Family genetic testing with alleged Huntington's Chorea. Fetal HD exclusion test. Miscarriages and chromosomal translocation.

Bibliography

Didactic methods

Pdf files about case reports and relevant scientific papers via Moodle.

Learning assessment procedures

Eligibility based on the attendance. Moodle based online distance learning

Evaluation criteria

For the final assessment it is only necessary to be correctly registered, and to have received and read all the material.

Criteria for the composition of the final grade

eligibility.

Exam language

italiano