Portale di Ateneo - En.Unibs.it

Introduction
Areas of medical genetics expertise and definitions, web resources for the study of chromosomal genetic and genomic disorders, classification of genetically determined diseases.

Chromosomal disorders
The normal and pathological karyotype: the number and structure of chromosomes abnormalities, microdeletion and microduplications syndromes, ISCN nomenclature,
Cytogenetic diagnosis of chromosomal diseases: karyotype analysis, FISH analysis, array CGH

Mendelian inheritance: autosomal dominant, recessive and X-linked
Mendel's experiments, the basic concepts of probability, family tree. Autosomal dominant inheritance with incomplete penetrance, variable expressivity, pleiotropy, germline mosaicism. Codominance: blood groups. Autosomal recessive inheritance: inbreeding, allelic and locus heterogeneity. X-linked inheritance: X chromosome inactivation. Examples of disease specific for each category.
Molecular diagnosis of hereditary diseases: PCR, automated DNA sequencing

Atypical inheritance:
mitochondrial inheritance, genomic imprinting, uniparental disomy, anticipation and trinucleotide expanding diseases

Basis of multifactorial inheritance

Genetic counseling elements
Definition, genetic counseling objectives and types with particular reference to prenatal diagnosis of chromosomal and genetic diseases.