Term
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Definition
The progressively earlier onset and increased severity of a disease in successive generations.
Caused by expansion of unstable triplet reapeats over generations. |
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Term
| What TNR is involved in Huntington's Disease? |
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Definition
CAG repeat (CAG for Animalistic Sex) |
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Term
| What TNR is involved in Fragile X? |
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Definition
CGG/GCC (CGG for X-linked or received from girl) |
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Term
| What TNR is involved in Spinocerebellar Ataxia? |
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Definition
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Term
| What parental expansion bias is found in Fragile X? |
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Definition
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Term
| What parental expansion bias is found in Myotonic Dystrophy? |
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Definition
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Term
| What parental expansion bias is found in Huntington's Disease? |
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Definition
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Term
| What parental expansion bias is found in Spino Cerebellar Ataxias (SCA)? |
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Definition
Paternal
(pattern: CAG TNRs = paternal bias) |
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Term
| What parental bias is found in Friedrich Ataxia? |
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Definition
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Term
| Where is the TNR expansion located in Fragile X? |
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Definition
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Term
| Where is the TNR located in Huntington's Disease? |
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Definition
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Term
| Where is the TNR located in Myotonic Dystrophy? |
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Definition
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Term
| What type of inheritance pattern is Myotonic Dystrophy? |
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Definition
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Term
What are the threshholds for TNR numbers in Myotonic Dystrophy?
Mild, Classic, Congenital |
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Definition
Mild= 50-150 Classic= 100-1000 Congenital > 1000 |
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Term
| What form of inheritance is Fragil X Syndrome? |
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Definition
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Term
A post-pubescent boy presents with a long face, large ears, prominent jaw, and large testis. He is also mentally handicapped. This patient likely suffers from what disease? |
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Definition
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Term
| what are is the number of CGG TNRs involved in Normal, premutation, and disease with respect to Fragile X? |
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Definition
Normal < 50 Premutation 59-200 Disease > 200 |
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Term
An increased risk of what is found in women carrying the PREMUTATION for fragile x? |
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Definition
| Premature Ovarian Failure (20% risk) |
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Term
| An increased risk of what is found in males carrying the premutation for Fragile X? |
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Definition
FXTAS:
fragile-X associated tremor/ataxia syndrome |
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Term
| What number of Huntington CAG repeats produce a nearly 100% chance of developing the disease? |
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Definition
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Term
| What number of CAG repeats will result in reduced penetrance for Huntington's Disease? |
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Definition
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Term
What are the numbers for normal vs. premutation CAG repeats in Huntington's? |
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Definition
normal < 26 premutation 27-35 |
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Term
| A patient with Huntingtons has > 60 CAG repeats. What type of onset will this patient experience? |
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Definition
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