Chapters

11.0 Learning aims, what you should already know, introduction, delving deeper

• Learning aims
  
• What you should already know
  
• Introduction
• Delving deeper

11.1 Single gene defect or mutation

• Introduction
• Autosomal dominant inheritance
• Autosomal recessive inheritance
• X chromosomal inheritance

11.2 Deviating chromosome number or structure

• Introduction
• 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

• Introduction
• 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 your knowledge

11.6 Brief summary

• Summarized

11.7 Bibliography

• References