MEDICINE AND SURGERY | University of Parma

Professor: Antonio PERCESEPE
Academic discipline: Genetica medica (MED/03)
Field: Attività formative affini o integrative
Type of training activity: Related/supplementary

7 hours
of face-to-face activities

1 credits

hub: -

course unit
in ITALIAN

lectures timetable unavailable

exam calls

Integrated course unit module: GYNECOLOGY AND OBSTETRICS (PETSE)

Learning objectives

To give the bases for the understanding of the strategies for the prenatal diagnosis of the main genetic diseases

Prerequisites

• DNA structure and replication
• Chromosome structure and human karyotype
• Gene structure, transcription and maturation of the mRNA.
• Protein structure. Structure and function of the enzymes
• Phenotypic variation at the cellular, tissue and individual level
• Genetic polymorphisms
• Mendelian inheritance in man
• Principles of population genetics
• Mutations as cause of variability
• Gene mutations. Types, location and genetic analysis
• Molecular mechanisms of the genetic mutations and their consequences for the synthesis and structure of the proteins
• Chromosomal aneuploidies and their pathogenetic mechanism

Course unit content

Applications of Medical Genetics to Obstetrics: the prenatal diagnosis of genetic diseases

Full programme

1. Invasive prenatal diagnosis
a. Definition and classification of the genetic tests into diagnostic and pre-sintomatic
1. New Regional law regulating the access to the prenatal diagnosis (August 2017)
2. Cytogenetics: indications and procedures for amniocentesis and chorionic villi
3. Prenatal genetic testing: indications and procedures
4. Pre-implantation diagnosis

2. Mosaicisms and their consequences
a. Definition
b. Types of mosaicisms for the analysis of amniotic liquid and chorionic villi:
i. True fetal mosaicism
ii. pseudomosaicism.
c. The uniparental disomy (UPD) as a rescue mechanism of a trisomy: the pre-zygotic errors
d. Clincal cases: trisomy 20, 22 and 12
3. The chromosomal structural abnormalities: reciprocal and robertsonian translocations an risks of unbalancement

4. The supernumerary markers in prenatal diagnosis

5. CGH arrays: indications in prenatal diagnosis

6. Non-invasive prenatal testing (NIPT)

7. Prenatal genetic counseling: characteristics and objectives

Bibliography

Thompson & Thompson: GENETICS IN MEDICINE. Elsevier, Eight Edition, 2016

Teaching methods

Lectures

Assessment methods and criteria

Multiple choice questionnaries

Other information

2030 agenda goals for sustainable development

- - -

Contacts

Toll-free number

800 904 084

Student registry office

E. [segreteria.medicina@unipr.it]
T. +39 0521 033700

Quality assurance office

Education manager

Giovanna Caselli
T. +39 0521 033851
Office E. didattica.dimec@unipr.it]
Manager E. [giovanna.caselli@unipr.it]

President of the degree course

[Prof.] [Marcello Giuseppe] [Maggio]
E. [marcellogiuseppe.maggio@unipr.it]

Faculty advisor

[Prof.] [Stefano] [Guizzardi]
E. [stefano.guizzardi@unipr.it]

[Prof.] [Aderville] [Cabassi]
E. [aderville.cabassi@unipr.it]

Career guidance delegate

[Prof.] [Stefano] [Guizzardi]
E. [stefano.guizzardi@unipr.it]

[Prof.] [Aderville] [Cabassi]
E. [aderville.cabassi@unipr.it]

Tutor Professors

[titolo] [nome] [cognome]
E. [email @unipr] (modificare link a email)

Erasmus delegate

[Prof.ssa] [Alessandra] [Dei Cas]
E. [alessandra.deicas@unipr.it]
[Prof.ssa] [Mara] [Bonelli]
E. [mara.bonelli@unipr.it]

[Prof.ssa] [Valentina] [Cannone]
E. [valentina.cannone@unipr.it]

[Prof.] [Andrea] [Ticinesi]
E. [andrea.ticinesi@unipr.it]

[Prof.] [Roberto] [Sala]
E. [roberto.sala@unipr.it]

Quality assurance manager

[Prof.] [Paolo] [Del Rio]
E. [paolo.delrio@unipr.it]

Internships

E. [adriana.calderaro@unipr.it ]

E. susannamariaroberta.esposito@unipr.it

E. aderville.cabassi@unipr.it

Tutor students