DOI: 10.1007/s10897-007-9099-y. Recommendations from Multi‐disciplinary Focus Groups on Cascade Testing and Genetic Counseling for Fragile X‐associated Disorders

Recommendations from Multi‐disciplinary Focus Groups on Cascade Testing and Genetic Counseling for Fragile X‐associated Disorders

10.1007/s10897-007-9099-y

Crossref journal-article

Wiley

Journal of Genetic Counseling (311)

Abstract

AbstractThe 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.

Bibliography

McConkieâRosell, A., Abrams, L., Finucane, B., Cronister, A., Gane, L. W., Coffey, S. M., Sherman, S., Nelson, L. M., BerryâKravis, E., Hessl, D., Chiu, S., Street, N., Vatave, A., & Hagerman, R. J. (2007). Recommendations from Multiâdisciplinary Focus Groups on Cascade Testing and Genetic Counseling for Fragile Xâassociated Disorders. Journal of Genetic Counseling, 16(5), 593â606. Portico.

Authors 14

Allyn McConkie‐Rosell (first)
Liane Abrams (additional)
Brenda Finucane (additional)
Amy Cronister (additional)
Louise W. Gane (additional)
Sarah M. Coffey (additional)
Stephanie Sherman (additional)
Lawrence M. Nelson (additional)
Elizabeth Berry‐Kravis (additional)
David Hessl (additional)
Sufen Chiu (additional)
Natalie Street (additional)
Ajay Vatave (additional)
Randi J. Hagerman (additional)

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Dates

Type	When
Created	18 years, 3 months ago (May 11, 2007, 12:11 p.m.)
Deposited	1 year, 11 months ago (Sept. 14, 2023, 11:45 p.m.)
Indexed	1 month, 3 weeks ago (July 11, 2025, 6:25 a.m.)
Issued	18 years, 3 months ago (May 12, 2007)
Published	18 years, 3 months ago (May 12, 2007)
Published Online	18 years, 3 months ago (May 12, 2007)
Published Print	17 years, 11 months ago (Oct. 1, 2007)

Funders 0

None

BibTeX

@article{McConkie_Rosell_2007, title={Recommendations from Multi‐disciplinary Focus Groups on Cascade Testing and Genetic Counseling for Fragile X‐associated Disorders}, volume={16}, ISSN={1573-3599}, url={http://dx.doi.org/10.1007/s10897-007-9099-y}, DOI={10.1007/s10897-007-9099-y}, number={5}, journal={Journal of Genetic Counseling}, publisher={Wiley}, author={McConkie‐Rosell, Allyn and Abrams, Liane and Finucane, Brenda and Cronister, Amy and Gane, Louise W. and Coffey, Sarah M. and Sherman, Stephanie and Nelson, Lawrence M. and Berry‐Kravis, Elizabeth and Hessl, David and Chiu, Sufen and Street, Natalie and Vatave, Ajay and Hagerman, Randi J.}, year={2007}, month=may, pages={593–606} }

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