Journal of Genetic Counseling

, Volume 14, Issue 4, pp 249–270

Genetic Counseling for Fragile X Syndrome: Updated Recommendations of the National Society of Genetic Counselors


    • Duke University Medical Center
    • Division of Medical GeneticsDuke University Medical Center
  • Brenda Finucane
    • Elwyn Training and Research Institute
  • Amy Cronister
    • Genzyme Genetics
  • Liane Abrams
    • Liane Abrams: National Fragile X Foundation
  • Robin L. Bennett
    • Medical Genetics, Department of MedicineUniversity of Washington
  • Barbara J. Pettersen
    • Genetic Counseling of Central Oregon
Professional Issues

DOI: 10.1007/s10897-005-4802-x

Cite this article as:
McConkie-Rosell, A., Finucane, B., Cronister, A. et al. J Genet Counsel (2005) 14: 249. doi:10.1007/s10897-005-4802-x


These recommendations describe the minimum standard criteria for genetic counseling and testing of individuals and families with fragile X syndrome, as well as carriers and potential carriers of a fragile X mutation. The original guidelines (published in 2000) have been revised, replacing a stratified pre- and full mutation model of fragile X syndrome with one based on a continuum of gene effects across the full spectrum of FMR1 CGG trinucleotide repeat expansion. This document reviews the molecular genetics of fragile X syndrome, clinical phenotype (including the spectrum of premature ovarian failure and fragile X-associated tremor-ataxia syndrome), indications for genetic testing and interpretation of results, risks of transmission, family planning options, psychosocial issues, and references for professional and patient resources. These recommendations are the opinions of a multicenter working group of genetic counselors with expertise in fragile X syndrome genetic counseling, and they are based on clinical experience, review of pertinent English language articles, and reports of expert committees. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a health care provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.


fragile X syndromegenetic counselinggenetic testingpremature ovarian failureFXTASpremutationFMR1prenatal diagnosisNational Society of Genetic Counselorspractice guidelines

Copyright information

© Springer Science + Business Media, Inc. 2005