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.

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

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

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

45 x; short stature amenhorrea, congenital heart defects

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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