Hoofdstukken

11.0 Leerdoelen, wat u reeds dient te weten, inleiding, dieper graven

• Leerdoelen
  
• Wat u reeds dient te weten
  
• Inleiding
• Dieper graven

11.1 Single gene defect or mutation

• Inleiding
• Autosomal dominant inheritance
• Autosomal recessive inheritance
• X chromosomal inheritance

11.2 Deviating chromosome number or structure

• Inleiding
• Origin of the deviating number of chromosomes
• Origin of the deviating chromosome structure
  • Deletion
  • Duplication
  • Inversion
  • Insertion
  • Isochromosome formation
  • Reciprocal translocation
  • Robertsonian translocation
• Polyploidy
• Mosaic

11.3 The genome - more complex than the sum of its genes

• Inleiding
• SNPs or single nucleotide polymorphism
• Polygenic and multifactorial hereditary disease

11.4 Clinical and prenatal examinations

• In the clinic
• Prenatal examination
• Clinical picture

11.5 Quiz

• Test uw kennis

11.6 Korte samenvatting

• Samengevat

11.7 Bibliografie

• Referenties