Dissemination of genetic risk information to relatives in the fragile X syndrome: guidelines for genetic counselors.

Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • McConkie-Rosell, A; Robinson, H; Wake, S; Staley, LW; Heller, K; Cronister, A

Published Date

  • December 4, 1995

Published In

Volume / Issue

  • 59 / 4

Start / End Page

  • 426 - 430

PubMed ID

  • 8585560

Pubmed Central ID

  • 8585560

International Standard Serial Number (ISSN)

  • 0148-7299

Digital Object Identifier (DOI)

  • 10.1002/ajmg.1320590406

Language

  • eng

Conference Location

  • United States