ArticleJournal of medical genetics1997
Fragile X syndrome is less common than previously estimated.
Article in Journal of medical genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 90 citations in OpenAlex.
- Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors.Journal of genetic counseling · 2005Guideline
- Up-regulation of Minibrain/DYRK1A contributes to macrocephaly and brain overgrowth in aProceedings of the National Academy of Sciences of the United States of America · 2026Article
- Anxiety disorders in fragile X premutation carriers: Preliminary characterization of probands and non-probands.Intractable & rare diseases research · 2015Article
- Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders.Brain research · 2014Review
- Biophysical characterization of G-quadruplex forming FMR1 mRNA and of its interactions with different fragile X mental retardation protein isoforms.RNA (New York, N.Y.) · 2014Article
- FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States.Genome medicine · 2012Article
- High-risk fragile x screening in Guatemala: use of a new blood spot polymerase chain reaction technique.Genetic testing and molecular biomarkers · 2009Article
- Genetic risk communication: experiences of adolescent girls and young women from families with fragile X syndrome.Journal of genetic counseling · 2009Article
- Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population.The Journal of molecular diagnostics : JMD · 2009Article
- Living with genetic risk: effect on adolescent self-concept.American journal of medical genetics. Part C, Seminars in medical genetics · 2008Article
- Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders.Journal of genetic counseling · 2007Article
- Increase of FMRP expression, raised levels of FMR1 mRNA, and clonal selection in proliferating cells with unmethylated fragile X repeat expansions: a clue to the sex bias in the transmission of full mutations?Journal of medical genetics · 2000Article
- Genetic Counseling for Fragile X Syndrome: Recommendations of the National Society of Genetic Counselors.Journal of genetic counseling · 2000Article
- FRAXA and FRAXE: the results of a five year survey.Journal of medical genetics · 2000Article
- Hypomethylation of an expanded FMR1 allele is not associated with a global DNA methylation defect.American journal of human genetics · 1999Article
- Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population.American journal of human genetics · 1999Article
- Cystic fibrosis carrier frequencies in populations of African origin.Journal of medical genetics · 1999Article
- Recurrence risks in mental retardation.Journal of medical genetics · 1998Review
- FMR1 and the fragile X syndrome: human genome epidemiology review.Genetics in medicine : official journal of the American College of Medical GeneticsReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In 1986, a population study of school children in the city of Coventry gave an overall prevalence in males and females for fragile X syndrome of 1/952. The 29 children diagnosed as having fragile X syndrome in this study have been re-evaluated with molecular diagnostic techniques. Eighteen of the original 29 children have been found not to have the expansion of the FMR1 gene associated with fragile X syndrome. Revised prevalence figures have been calculated giving rise to an overall prevalence figure of 1/2720 (range 1/2198-1/3089). If the four children lost to follow up are also assumed not to have the fragile X syndrome, the revised prevalence figure was 1/5714 (range 1/4762-1/6349). Clinical review of boys with severe mental retardation from this and a subsidiary study show that the clinical features of head circumference greater than the 50th centile, testicular volume greater than the 50th centile, and IQ between 35 and 70 remain helpful in distinguishing boys with fragile X syndrome from those who have non-specific mental retardation.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.