Genetic diseases

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Genetic conditions

टेक्स्ट से मिलान करें (क्लिक करें और खींचें)   

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पाठ से मेल खाते हैं

Turners

Klienfelter's

Patau syndrome

Edwards syndrome

Downs syndrome

Xermadoma Pigentosum

Gastrointestinal cancers

Double strand breaks

क्लिक करें और खींचें

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

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

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.

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

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


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