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6 Cards in this Set

  • Front
  • Back

Effects of changes to the structure ot number of chromosomes

Changes in structure occur in translocation


Usually leads to non viable gamates


Extra of missing DNA

Effects of extra chromosomes

Downs syndrome


-missing chromosome


- trisomy 21

Downs syndrom fertilisation

Downs x normal fetilisation

Trisomy 22 and 21 can be tolerated due to the smaller numbers of genes they carry, however other genes such as 1 and 2 are longer, containing morr genes so cannot be tolerated

Trisomy


Happens in oogenesis instead of spermatogenesis


Caused by stop start process( older=more stop starting)


More likelihood of disjunction is to occur


1 in 700 pregnancies


1 in 100 in women over 40


Phenotypes of downs

Open flat faces


Happy


Friendly personality


Impact of mental ability


Known as mentally retarded