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Università degli Studi di Parma Università degli Studi di Parma
Health professions degree in
Midwifery
Università degli Studi di Parma
Department of Medicine and Surgery

MEDICAL GENETICS
cod. 14441

Academic year 2023/24
3° year of course - First semester
Professor
Antonio PERCESEPE
Academic discipline
Genetica medica (MED/03)
Field
Scienze biomediche
Type of training activity
Basic
10 hours
of face-to-face activities
1 credits
hub: -
course unit
in ITALIAN
lectures timetable unavailable
exam calls

Integrated course unit module: PEDIATRICS

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Learning objectives

To give the bases for the understanding the etiopathogenesis of the diseases in man and 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
• Mendelian inheritance in man
• Mutations as cause of variability

Course unit content

Applications of Medical Genetics to Obstetrics: the genetic basis of the diseases in man and their diagnosis during the pregnancy

Full programme

1. Invasive prenatal diagnosis
- the procedures of cytogentic analysis
- Cytogenetics: aneuploidies and structural chromosomal abnormalities
- Prenatal genetic testing: indications and procedures
4. Pre-implantation diagnosis

2. The genetic diseases diagnosed during pregnancy:
- The mosaicisms and their consequences
- The genomic rearrangements which can not be seen with the chromosomal analysis: CGH arrays

3. Non-invasive prenatal testing (NIPT)

4. 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

4, 5

Contacts

Toll-free number

800 904 084

Student registry office

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

Quality assurance office

Education manager:
Sandra Cavalca
T. +39 0521 034908
E.  didattica.dimec@unipr.it
E.  sandra.cavalca@unipr.it 

President of the degree course

Prof. Tullio GHI
E. tullio.ghi@unipr.it 

Faculty advisor

Dott.ssa Serena Neri
E. serena.neri@unipr.it

Career guidance delegate  

Dott.ssa Serena Neri
E. serena.neri@unipr.it

Director of Professionalising Teaching Activities (DADP)

Dott.ssa Serena Neri
E. serena.neri@unipr.it

Erasmus delegates

Prof.ssa Thelma Pertinhez
E. thelma.pertinhez@unipr
 

Quality assurance manager

Prof.ssa Paola Affanni
E. paola.affanni@unipr.it

Tutor

Dott.ssa Francesca Frati
E. francesca.frati@unipr.it 

Dott.ssa Martina Dardari
E. martina.dardari@unipr.it