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    Mezaily Ayrin
    4 vizualizări3 pagini
    Thanks for the update and for the record I have to go to the store and get some rest and feel better soon and that is the only way I can get a ride to the airport on Friday and I will be there at the same time I don't have a car so I can get a ride to the airport on Sunday and I will be there at the end

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    Thanks for the update and for the record I have to go to the store and get some rest and feel better soon and that is the only way I can get a ride to the airport on Friday and I will be there at the same time I don't have a car so I can get a ride to the airport on Sunday and I will be there at the end

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    Descărcați ca PDF, TXT sau citiți online pe Scribd
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    4 vizualizări3 pagini

    2

    Încărcat de

    Mezaily Ayrin
    Thanks for the update and for the record I have to go to the store and get some rest and feel better soon and that is the only way I can get a ride to the airport on Friday and I will be there at the same time I don't have a car so I can get a ride to the airport on Sunday and I will be there at the end

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    © All Rights Reserved
    Descărcați ca PDF, TXT sau citiți online pe Scribd
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    din 3

    • X chromosome

    • Xq27.3
    • FMR1 gene

    Pathogenesis

    CGG sequence

    If the repeat
    number is...

    <45 CGG 55-230 CGG


    repeats repeats >230 CGG
    triplicate
    repeats in FMR
    normal FMR1 premutation of
    gene
    gene FMR1 gene

    no symptoms of present in
    1. Primary methylation of
    Fragile X female carrier
    Ovarian deoxycitidines
    Syndrome
    Insufficiency in promoter
    (POI) when passed on region
    through X-
    linked hypermetylation
    2. Fragile X- inheritance of CpG Island
    associated
    tremor ataxia
    syndrome can increase prevent
    (FXTAS) due to the repeats of transcription
    excess mRNA mutation and translation
    (accumulate in of FMR1 gene
    subsequent
    generations) absence of FMR
    protein
    more
    phenotypically
    Pathophysiology
    severe

    causing earlier development


    >230 repeats delays, mental
    symptom onset
    known as retardation,
    Genetic irritated,
    Pathophysiology Anticipation hyperactive

    FRAGILE X
    development delays, SYNDROME
    mental retardation,
    irritated, hyperactive

    FRAGILE X
    SYNDROME

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