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Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders.

Publication ,  Journal Article
McConkie-Rosell, A; Abrams, L; Finucane, B; Cronister, A; Gane, LW; Coffey, SM; Sherman, S; Nelson, LM; Berry-Kravis, E; Hessl, D; Chiu, S ...
Published in: J Genet Couns
October 2007

The purpose of this paper is to report the outcome of a collaborative project between the Fragile X Research and Treatment Center at the Medical Investigation of Neurodevelopmental Disorders (M.I.N.D.) Institute at the University of California at Davis, the National Fragile X Foundation (NFXF), and the Centers for Disease Control and Prevention (CDC). The objective of this collaboration was to develop and disseminate protocols for genetic counseling and cascade testing for the multiple disorders associated with the fragile X mental retardation 1 (FMR1) mutation. Over the last several years, there has been increasing insight into the phenotypic range associated with both the premutation and the full mutation of the FMR1 gene. To help develop recommendations related to screening for fragile X-associated disorders, four, two day advisory focus group meetings were conducted, each with a different theme. The four themes were: (1) fragile X-associated tremor/ataxia syndrome (FXTAS); (2) premature ovarian failure (POF) and reproductive endocrinology; (3) psychiatric, behavioral and psychological issues; and (4) population screening and related ethical issues.

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Published In

J Genet Couns

DOI

ISSN

1059-7700

Publication Date

October 2007

Volume

16

Issue

5

Start / End Page

593 / 606

Location

United States

Related Subject Headings

  • Mutation
  • Medical History Taking
  • Humans
  • Genetics & Heredity
  • Genetic Testing
  • Genetic Counseling
  • Fragile X Syndrome
  • Fragile X Mental Retardation Protein
  • Focus Groups
  • 3202 Clinical sciences
 

Citation

APA
Chicago
ICMJE
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McConkie-Rosell, A., Abrams, L., Finucane, B., Cronister, A., Gane, L. W., Coffey, S. M., … Hagerman, R. J. (2007). Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders. J Genet Couns, 16(5), 593–606. https://doi.org/10.1007/s10897-007-9099-y
McConkie-Rosell, Allyn, Liane Abrams, Brenda Finucane, Amy Cronister, Louise W. Gane, Sarah M. Coffey, Stephanie Sherman, et al. “Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders.J Genet Couns 16, no. 5 (October 2007): 593–606. https://doi.org/10.1007/s10897-007-9099-y.
McConkie-Rosell A, Abrams L, Finucane B, Cronister A, Gane LW, Coffey SM, et al. Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders. J Genet Couns. 2007 Oct;16(5):593–606.
McConkie-Rosell, Allyn, et al. “Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders.J Genet Couns, vol. 16, no. 5, Oct. 2007, pp. 593–606. Pubmed, doi:10.1007/s10897-007-9099-y.
McConkie-Rosell A, Abrams L, Finucane B, Cronister A, Gane LW, Coffey SM, Sherman S, Nelson LM, Berry-Kravis E, Hessl D, Chiu S, Street N, Vatave A, Hagerman RJ. Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders. J Genet Couns. 2007 Oct;16(5):593–606.
Journal cover image

Published In

J Genet Couns

DOI

ISSN

1059-7700

Publication Date

October 2007

Volume

16

Issue

5

Start / End Page

593 / 606

Location

United States

Related Subject Headings

  • Mutation
  • Medical History Taking
  • Humans
  • Genetics & Heredity
  • Genetic Testing
  • Genetic Counseling
  • Fragile X Syndrome
  • Fragile X Mental Retardation Protein
  • Focus Groups
  • 3202 Clinical sciences