Letters to the editor
Presymptomatic testing in myotonic dystrophy: genetic counselling approaches
Siv Fokstuen*, Jenny Myring, Christine Evans, Peter S HarperInstitute
of Medical Genetics, University of Wales College of Medicine, Heath
Park, Cardiff, CF4 4XN, UK
Correspondence to: Professor Harper, harperps@cardiff.ac.uk
| The first 150 words of the full text of this article appear below. |
 |
Introduction |
|---|
EDITOR
We report the genetic counselling
approaches used in a series of 72 presymptomatic genetic tests for
myotonic dystrophy undertaken in our centre over an eight year period.
The study has identified factors which influenced the counsellor's
approach, and which can provide a basis for further, more systematic research.
Genetic counselling in myotonic dystrophy has always been difficult and complex, owing to the extreme variability of the disorder, in both severity and age at onset, with anticipation between generations and influence of the sex of the affected parent.
The identification of a CTG repeat expansion within the 3'
untranslated region of the myotonic dystrophy protein kinase gene on
chromosome 191 as the primary molecular defect has
transformed our understanding of the genetic aspects of this disorder
and provides the basis for an accurate and specific diagnostic and presymptomatic test. The broad correlation of the size of the CTG
expansion with
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Relevant Article
- Eight years' experience of direct molecular testing for myotonic dystrophy in Wales
- Siv Fokstuen, Jenny Myring, Linda Meredith, David Ravine, Peter S Harper
J. Med. Genet. 2001 38: e42.[Extract] [Full Text] [PDF]
This article has been cited by other articles:
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Fokstuen, S., Myring, J., Meredith, L., Ravine, D., Harper, P. S
(2001). Eight years' experience of direct molecular testing for myotonic dystrophy in Wales. J. Med. Genet.
38
: e42-e42
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