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Genetic disorders

Very basic genetics
  • Genetic abnormalities can be inherited or mutations
  • 46 chromosomes, 22 pairs of autosomes + 2 sex chromosomes. Male XY, female XX.
  • Pair of genes in same place on autosomes = alleles .
  • Incomplete penetrance = can cause skipped generations, genotype present but no expression
  • Variable expressivity = some disorders affect several systems to varying degrees in different individuals


  • = Involve a single gene.

Autosomal dominant

Autosomal Recessive

X linked dominant

  • Either sex can be affected
  • Females pass to 50% sons & Pass to 50% daughters
  • Male pass to 100% of daughters, not to sons
  • eg. 

X linked recessive

Variable forms of Inheritance

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