Fragile X syndrome is less common than previously estimated
Open accessAbstract
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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Published studies report the prevalence rate of Fragile X syndrome and autistic behaviors/ASD diagnosis to range from 25-47%, but sample sizes are often small.
“Published studies have reported the prevalence rate of FXS and autistic behaviors/ASD diagnosis to range from 25–47%, however sample sizes are often small (Hatton et al., 2006; Morton et al., 1997).”
From Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders (2014) · cites this paper as Morton et al., 1997
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- Authors
- Morton, J. E., Bundey, S., Webb, T. P., MacDonald, F., Rindl, P. M., & Bullock, S.
- Affiliations
- Birmingham Women's Hospital (GB)
- ORCID
- MacDonald, F
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 1997-01
- Volume
- 34
- Issue
- 1
- Pages
- 1-5
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- PMC
- PMC1050837
- OpenAlex
- W2035470829
- Cited by
- 92
- References
- 28
- Citations by year
- 2026: 1 · 2021: 1 · 2019: 1 · 2018: 1 · 2017: 2 · 2015: 3 · 2014: 2 · 2013: 1 · 2012: 2
- FWCI
- 7.32
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Medical Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- fragile X syndrome, prevalence, FMR1 gene, CGG repeat expansion, molecular diagnosis, elementary school students, intellectual disability, head circumference, testicular volume, Coventry
- MeSH terms
- Adolescent, Child, Cytogenetics, Diagnosis, Differential, Female, Fragile X Syndrome, Genetic Testing, United Kingdom, Humans, Intelligence Tests, Male, Intellectual Disability, Sex Chromosome Aberrations, X Chromosome, Blotting, Southern, Prevalence, In Situ Hybridization
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