MEDICAL GENETICS
cod. 03553

Academic year 2019/20
3° year of course - First semester
Professor
PERCESEPE Antonio
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

Integrated course unit module: PRINCIPLES OF ONCOLOGY

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

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