2007
DOI: 10.1007/s10897-007-9099-y
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Recommendations from Multi‐disciplinary Focus Groups on Cascade Testing and Genetic Counseling for Fragile X‐associated Disorders

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 wit… Show more

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Cited by 73 publications
(59 citation statements)
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“…40 The presence in the proband's family of movement disorders, learning disabilities, mental retardation, or primary ovarian insufficiency should increase suspicion of the presence of FMR1 mutations in the family. 41 A suggested targeted family history questionnaire can be found in Table 2. The testing procedure encompasses two complementary analyses.…”
Section: Diagnostic Approachesmentioning
confidence: 99%
“…40 The presence in the proband's family of movement disorders, learning disabilities, mental retardation, or primary ovarian insufficiency should increase suspicion of the presence of FMR1 mutations in the family. 41 A suggested targeted family history questionnaire can be found in Table 2. The testing procedure encompasses two complementary analyses.…”
Section: Diagnostic Approachesmentioning
confidence: 99%
“…McConkie-Rosell et al (2007) have highlighted the need to develop information materials such as targeted brochures and fact sheets to increase women's understanding of risks and benefits at the time of offering screening that should be based on appropriate pre-test and post-test counselling guidelines (Archibald et al 2009). …”
Section: Carrier Screening For Fragile X Syndromementioning
confidence: 99%
“…68 McConkie-Rossell et al 52 have also highlighted the need to develop information materials such as targeted brochures and fact sheets to increase women's understanding of risks and benefits at the time of offering screening. As part of developing and testing educational and counseling strategies, consideration should be given to the different ways carrier screening for FXS could be offered within a particular setting.…”
Section: Carrier Screening For Fxs In Women Of Reproductive Agementioning
confidence: 99%
“…In these cases, the FMR1 gene is switched off as a result of an increase in the number of hypermethylated trinucleotide (CGG) repeats in the 5Ј untranslated region of the gene. Current definitions describe the normal range of CGG repeats as 6 -44, the "gray zone" range as [45][46][47][48][49][50][51][52][53][54] repeats, and the premutation range as 55-199 repeats. 8 Those affected by FXS have Ͼ200 repeats (full mutation).…”
mentioning
confidence: 99%
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