Genetic diseases

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Genetic conditions

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Turners

Klienfelter's

Patau syndrome

Edwards syndrome

Downs syndrome

Xermadoma Pigentosum

Gastrointestinal cancers

Double strand breaks

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BRAC 2 gene important in breast and ovarian cancers involved in homologous recombination.

Problems with the muts and mutl proteins used in mismatch repair leads to and inability to remove mismatched pairs.

Trisomy 21: distinctive facial features, low iq, congenital heart problems

Trisomy 18: clenched fist, heart and kidney problems, cleft lip.

45 x; short stature amenhorrea, congenital heart defects

Lack of nucleotide excision repair, leads to inability to repair pyrimadine dimers and very often skin cancers

Trisomy 13: midline problems, cleft lip, brain lobing problems, congenital heart defects

47 xxy : tall, poorlyy developed testes and lack of pubic hair or facial hair.


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