ArticleArchives of disease in childhood1995
DNA testing for fragile X syndrome in schools for learning difficulties.
Article in Archives of disease in childhood, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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.
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Who cites it
10 citing papers in PubMed, 32 citations in OpenAlex.
- A 30-Year Experience in Fragile X Syndrome Molecular Diagnosis from a Laboratory in Thailand.International journal of molecular sciences · 2025Article
- Fragile X syndrome: the FMR1 CGG repeat distribution among world populations.Annals of human genetics · 2012Review
- The fragile X syndrome.Journal of medical genetics · 1998Review
- Recurrence risks in mental retardation.Journal of medical genetics · 1998Review
- Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group.American journal of human genetics · 1997Article
- Fragile X, iron, and neurodevelopmental screening in 8 year old children with mild to moderate learning difficulties.Archives of disease in childhood · 1997Article
- Fragile X syndrome is less common than previously estimated.Journal of medical genetics · 1997Article
- Fragile X syndrome.Archives of disease in childhood · 1996Article
- Treatment of fragile X syndrome.Archives of disease in childhood · 1995Article
- FMR1 and the fragile X syndrome: human genome epidemiology review.Genetics in medicine : official journal of the American College of Medical GeneticsReview
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fragile X syndrome is the most common inherited cause of mental retardation. Early diagnosis is important not only for appropriate management of individuals but also to identify carriers who are unaware of their high risk of having an affected child. The disorder is associated with a cytogenetically visible fragile site (FRAXA) at Xq27.3, caused by amplification of a (CGG)n repeat sequence within the gene at this locus designated FMR1. Clinical and molecular studies have been undertaken to screen for fragile X syndrome in 154 children with moderate and severe learning difficulties of previously unknown origin. Southern blot analysis of peripheral blood showed the characteristic abnormally large (CGG)n repeat sequence associated with fragile X syndrome in four of the 154 children. The findings were confirmed by cytogenetic observation of the fragile site and by further molecular studies. The families of the affected children were offered genetic counselling and DNA tests to determine their carrier status. These findings show that there are still unrecognised cases of fragile X syndrome. Given the difficulty of making a clinical diagnosis and the implications for families when the diagnosis is missed, screening in high risk populations may be justified. The issues involved in screening all children in special schools for fragile X syndrome are discussed.
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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.