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

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

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

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

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

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


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