Trinucleotide repeat deck Flashcards
In myotonic dystrophy, what is the trinucleotide repeat in question and how many is categorized as normal
CTG, <35
In myotonic dystrophy, how many repeats is considered premutation
35-49
In myotonic dystrophy, how many repeats is considered mild
50-150
In myotonic dystrophy, how many repeats is considered classic
100-1000
In myotonic dystrophy, how many repeats is considered congenital
> 1000
What are the stages of anticipation for myotonic muscular atrophy
Normal<congenital
In fragile X, what is the repeat in question and how many is normal
CGG, <45
What are the stages of anticipation in fragile x
Normal<full mutation
How many repeats are considered intermediate in fragile X
45-54
How many repeats are considered premutation in fragile X
55-200
how many repeats are considered full mutation is fragile x
> 200
