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5 Cards in this Set
- Front
- Back
- 3rd side (hint)
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Phenotype: long face, prominent ears (more pronounces with age), large testes, DD/MR
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Fragile X
Gene: FMR1 TNR: CGG upstream of start site MOI: XL |
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Phenotype: cataracts, inability to release handshake, droppy mouth, LD in adults
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Myotonic Dystrophy
Gene: DMPK TNR: GTG in 3' UTR MOI: AD (maternal expansion) |
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Phenotype: progressive ataxia, absent reflexes, speech issues
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Friedrich Ataxia
Gene: FRDA TNR: GAA in intron MOI: AR |
Only recessive TNR disorder
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Phenotype: articulation and swallowing difficulties; androgen insensitivity (testicular feminization)
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SBMA
Gene: AR TNR: GAA in exon MOI: XL |
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Phenotype: neurodegeneration starting ~50y, chorea, personality changes
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Huntington Disease
Gene: IT-19 TNR: CAG in exon MOI: AD (paternal expansion) |
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