Dissemination of genetic risk information to relatives in the fragile X syndrome: Guidelines for genetic counselors
- 4 December 1995
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 59 (4) , 426-430
- https://doi.org/10.1002/ajmg.1320590406
Abstract
Fragile X syndrome, which affects 1 in 1,250 males, is the most common inherited condition causing mental retardation. Although carrier detection for the fragile X syndrome utilizing DNA has now been simplified, genetic counseling and the process of informing at‐risk family members remains complex. The purpose of this paper is to offer practical guidelins to health professionals providing genetic counseling to fragile X families in order to facilitate the dissemination of genetic risk information to relatives. This paper was developed from a workshop held at the 4th International Fragile X Conference. The guidelines presented here represent a beginning in the development of an approach to informing relatives in fragile X familes about genetic risk, and the identification of mechanisms to reduce the burden to families.Keywords
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