Abstract
Several patients with Werner's syndrome in a large family group in Sardinia were ascertained three years ago and reported briefly by Rabbiosi and Borroni (1979). Since then two sisters from a second family and a single case from a third family were ascertained. The three families originated from the Northern part of Sardinia and no connection between them was found. We provide a detailed clinical description of six of these patients and attempt to estimate the prevalence and the gene frequency of Werner's syndrome in Sardinia. The prevalence was calculated as 1:94,914 for the two districts of Sassari and Nuoro and as 1:202,766 for the whole island. This is the highest prevalence thus far ascertained. Using Dahlberg's formula we obtained an estimate of the gene frequency q=0.003288 and thus a frequency of Werner's syndrome of 1:92,515. A more rigorous estimate gave a gene frequency q=0.001483 and thus a frequency of Werner's syndrome of 1:454,505, but because of the small sample size this estimate should be taken with caution.
Original language | English |
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Pages (from-to) | 25-30 |
Number of pages | 6 |
Journal | Human Genetics |
Volume | 62 |
Issue number | 1 |
DOIs | |
Publication status | Published - Nov 1982 |
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics