Prenatal diagnosis in myotonic dystrophy type 1. Thirteen years of experience: implications for reproductive counselling in DM1 families
Prenatal Diagnosis2006Vol. 27(1), pp. 68–72
Citations Over Time
Abstract
In our series, no significant deviation of the 50% expected frequency of transmission in autosomal dominant disorder was seen. We show that when the disease is transmitted by a male, the mean intergenerational variation is minimal (mean = 56 CTG, SD = 177 CTG). However, this does not occur in the affected mothers, where the mean intergenerational expansion is very high (mean = 948 CTG, SD = 815 CTG) and the difference is statistically significant (t-Student p < 0.0001). Our data have important implications for the genetic counselling of DM1 families.
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