Frances Heydon

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OBJECTIVE To obtain penetrance data for Huntington's disease when DNA results are in the range of 36-39 CAG repeats and assess the consistency of reporting the upper allele from two reference centres. METHOD Data were collected anonymously on age of onset or age last known to be unaffected from a cohort of individuals with results in this range. DNA(More)
Fragile X is a common cause of mental retardation in boys that can also affect girls. We present the case of a 21-year-old woman with Fragile X E (FRAXE) with learning difficulty, behavioural problems and epilepsy. Her diagnosis was made after investigations spanning several years, highlighting the importance of considering FRAXE and the benefits of(More)
MacLeod R, Tibben A, Frontali M, Evers-Kiebooms G, Jones A, Martinez-Descales A, Roos RA and Editorial Committee and Working Group ‘Genetic Testing Counselling’ of the European Huntington Disease Network. Recommendations for the predictive genetic test in Huntington’s disease Clin Genet 2012. © John Wiley & Sons A/S, 2012 R MacLeoda,†,‡, A Tibbenb,†,‡, M(More)
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