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Examples
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Dr. Berry-Kravis: We feel like it's important because it's going to identify people who are going to have problems developmentally, and it's going to identify some people with the smaller fragile X mutation called the premutation, which can cause things like premature ovarian failure in women, or a later onset degenerative problem that is somewhat like Parkinson's, but involves problems with tremors and walking.
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Carriers are relatively common: about 1 in 250 women and 1 in 800 men have the premutation, though some studies suggest the prevalence is higher.
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People like Cari and her father, with 55 to 200 repeats, are considered carriers of a fragile X "premutation."
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People like Cari and her father, with 55 to 200 repeats, are considered carriers of a fragile X "premutation."
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Carriers are relatively common: about 1 in 250 women and 1 in 800 men have the premutation, though some studies suggest the prevalence is higher.
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Jacquemont S, Hagerman RJ, Leehey M, Grigsby J, Zhang L, et al. (2003) Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates.
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Munhoz RP, Lang AE, Brunberg JA, Grigsby J, et al. (2003) The fragile X premutation presenting as essential tremor.
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Involvement among carriers of smaller (premutation) alleles can also involve developmental delays and/or autism spectrum disorders. "
THE MEDICAL NEWS 2009
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