OVERVIEW

See integrated course of Pediatrics

AIMS AND CONTENT

LEARNING OUTCOMES

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AIMS AND LEARNING OUTCOMES

Students are provided with knowledge about responsible genes and mechanisms of disease of monogenic hereditary diseases, including extensions due to genetic and allelic heterogeneity, penetrance and variable expression.

New diagnostic tools: CGH-Array and New Generation Sequencing.

Theoretical basis of complex hereditary diseases and the tools used to search genetic factors of susceptibility are discussed.

TEACHING METHODS

See integrated course of Pediatrics

Any Student with documented Specific Learning Disorders (SLD), or with any special needs, shall reach out to the Lecturer(s) and to the dedicated SLD Representative in the Department before class begins, in order to liase and arrange the specific teaching methods and ensure proper achievement of the learning aims and outcomes.

SYLLABUS/CONTENT

Recognize and classify the major congenital malformations, malformative syndromes and chromosomal illnesses

Identify environmental, external or intrauterine factors that may contribute to the handling of unfavorable hereditary characters and / or malformations

Traditional and molecular chromosome study

Approach to diseases with heterogeneous genetic etiology

Esome analysis

RECOMMENDED READING/BIBLIOGRAPHY

See integrated course of pediatrics

TEACHERS AND EXAM BOARD

LESSONS

LESSONS START

see integrated cours of pediatrics

Class schedule

The timetable for this course is available here: Portale EasyAcademy