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01.10.2007 | Original Research

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

verfasst von: Allyn McConkie-Rosell, Liane Abrams, Brenda Finucane, Amy Cronister, Louise W. Gane, Sarah M. Coffey, Stephanie Sherman, Lawrence M. Nelson, Elizabeth Berry-Kravis, David Hessl, Sufen Chiu, Natalie Street, Ajay Vatave, Randi J. Hagerman

Erschienen in: Journal of Genetic Counseling | Ausgabe 5/2007

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Abstract

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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Titel: Recommendations from Multi-disciplinary Focus Groups on Cascade Testing and Genetic Counseling for Fragile X-associated Disorders
verfasst von: Allyn McConkie-Rosell
Liane Abrams
Brenda Finucane
Amy Cronister
Louise W. Gane
Sarah M. Coffey
Stephanie Sherman
Lawrence M. Nelson
Elizabeth Berry-Kravis
David Hessl
Sufen Chiu
Natalie Street
Ajay Vatave
Randi J. Hagerman
Publikationsdatum: 01.10.2007
Verlag: Springer US
Erschienen in: Journal of Genetic Counseling / Ausgabe 5/2007
Print ISSN: 1059-7700
Elektronische ISSN: 1573-3599
DOI: https://doi.org/10.1007/s10897-007-9099-y

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