title: [Basic aspects of medical genetics].
abstract: The human genome consists of 23 pairs of chromosomes that contain 20 000-25 000 genes. Genetic disorders can be caused by different mechanisms, and therefore the confirmation of a suspected diagnosis requires knowledge of the underlying defect, so that the correct test can be applied. Monogenic diseases are caused by disturbances in a single gene, and currently only targeted diagnostic testing is available following a specific clinical suspicion. Chromosomal disorders usually involve multiple genes, so that the symptoms are often less specific. Specialists in Medical Genetics FMH are trained in creating a clinical genetic differential diagnosis, requesting the according laboratory test, interpretating the results and providing expert genetic counseling in presymptomatic and prenatal diagnosis. In Switzerland, specific legal principles and ethical guidelines must be taken into account.
authors.affiliation: Institut für Medizinische Genetik, Universität Zürich, Schlieren.
authors.forename: Sandra
authors.initials: S
authors.lastname: Pajarola
authors.forename: Ruxandra
authors.initials: R
authors.lastname: Bachmann
authors.forename: Dunja
authors.initials: D
authors.lastname: Niedrist
authors.forename: Anita
authors.initials: A
authors.lastname: Rauch
mesh_terms: D002869:Chromosome Aberrations; D019175:DNA Methylation / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D005826:Genetics, Medical / Q000379:methods*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007620:Karyometry / Q000379:methods; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods; D020411:Oligonucleotide Array Sequence Analysis; D017422:Sequence Analysis, DNA; D013557:Switzerland
chemical_list: D005819:Genetic Markers
keywords: Chromosomen; Mutationen; Sequenzierung; analyses génétiques; chromosomes; genetic testing; genetische Analysen; génétique médicale; medical genetics; medizinische Genetik; mutations; sequencing; séquençage