Article
Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG).
American journal of medical genetics. Part A - 1 Jul 2009
Hendricks Audrey E, Latourelle Jeanne C, Lunetta Kathryn L, Cupples L Adrienne, Wheeler Vanessa, MacDonald Marcy E, Gusella James F, Myers Richard H
Abstract excerpt
Huntington disease (HD) is a dominantly transmitted neurodegenerative disorder that arises from expansion of a CAG trinucleotide repeat on chromosome 4p16.3. CAG repeat allele lengths are defined as fully penetrant at >or=40, reduced penetrance at 36-39, high normal at 27-35, and normal at <or=26. Fathers, but not mothers, with high normal alleles are at risk of transmitting potentially penetrant HD alleles...
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