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Recurrent mutation pressure does not explain the prevalence of the marker (X) syndrome

✍ Scribed by F. Vogel; J. Krüger; K. Brøndum Nielsen; J. P. Fryns; D. Schindler; A. Schinzel; A. Schmidt; E. Schwinger

Book ID
104709770
Publisher
Springer
Year
1985
Tongue
English
Weight
602 KB
Volume
71
Category
Article
ISSN
0340-6717

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✍ Smits, Arie ;Smeets, Dominique ;Hamel, Ben ;Dreesen, Jos ;van Oost, Bernard 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 506 KB

## Abstract The overall prevalence of the fragile X [fra(X)] mutation, as determined by population studies, is approximately 1 in 850 [Gustavson et al., 1986; Webb et al., 1986]. This prevalence suggests a very high mutation rate which, in turn, suggests that many patients have to represent sporadi