title: Dissemination of genetic risk information to relatives in the fragile X syndrome: guidelines for genetic counselors.
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 guidelines 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 families about genetic risk, and the identification of mechanisms to reduce the burden to families.
authors.affiliation: Division of Medical Genetics, Duke University Medical Center, Durham, NC 27710, USA.
authors.forename: A
authors.initials: A
authors.lastname: McConkie-Rosell
authors.forename: H
authors.initials: H
authors.lastname: Robinson
authors.forename: S
authors.initials: S
authors.lastname: Wake
authors.forename: L W
authors.initials: LW
authors.lastname: Staley
authors.forename: K
authors.initials: K
authors.lastname: Heller
authors.forename: A
authors.initials: A
authors.lastname: Cronister
mesh_terms: D005190:Family; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics*; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D017410:Practice Guidelines as Topic