Informed choice in fragile X syndrome and its effects on prevalence
- 12 July 1996
- journal article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 64 (1), 198-202
- https://doi.org/10.1002/(sici)1096-8628(19960712)64:1<198::aid-ajmg36>3.0.co;2-g
Abstract
We present the effect of case finding, cascade testing, and counselling for fragile X syndrome in a population of 6.5 million over a decade. Carrier females made informed choices that resulted in a 10‐fold decrease in the prevalence of affected males in their offspring.Keywords
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