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

  • Professional Issues
  • Published:
Journal of Genetic Counseling

Abstract

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.

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Authors and Affiliations

  1. Duke University Medical Center, Durham, North Carolina

    Allyn McConkie-Rosell PhD, CGC

  2. Elwyn Training and Research Institute, Elwyn, Pennsylvania

    Brenda Finucane

  3. Genzyme Genetics, Phoenix, Arizona

    Amy Cronister

  4. Liane Abrams: National Fragile X Foundation, San Francisco, CA

    Liane Abrams

  5. Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington

    Robin L. Bennett

  6. Genetic Counseling of Central Oregon, Bend, Oregon

    Barbara J. Pettersen

  7. Division of Medical Genetics, Duke University Medical Center, Box 3525, Durham, North Carolina, 27710

    Allyn McConkie-Rosell PhD, CGC

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  1. Allyn McConkie-Rosell PhD, CGC
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  2. Brenda Finucane
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  3. Amy Cronister
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  4. Liane Abrams
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Correspondence to Allyn McConkie-Rosell PhD, CGC.

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McConkie-Rosell, A., Finucane, B., Cronister, A. et al. Genetic Counseling for Fragile X Syndrome: Updated Recommendations of the National Society of Genetic Counselors. J Genet Counsel 14, 249–270 (2005). https://doi.org/10.1007/s10897-005-4802-x

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