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

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

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

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

45 x; short stature amenhorrea, congenital heart defects

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

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

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


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