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Autosomal dominant with variable penetrance
21%
711/3329
Autosomal recessive with variable penetrance
3%
113/3329
X-linked recessive
105/3329
Autosomal dominant with anticipation
70%
2321/3329
Autosomal dominant with imprinting
2%
62/3329
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This clinical vignette describes a patient with Huntington's disease. Huntington's disease has an autosomal dominant hereditary pattern with anticipation. Anticipation is a term used to describe trinucleotide repeat disorders that if passed on, will present earlier and more severely in affected subjects than in their affected parent. In Huntington's disease, it is due to a "CAG" trinucleotide repeat on chromosome 4. Subjects with an affected parent have a 50% chance of inheriting the disease from them, and if present will have more severe disease. Deighton et al provide a review on the genetics of musculoskeletal disease including the hereditary pattern of anticipation.
2.3
(36)
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