| Fragile X syndrome is less common than previously estimated. | |
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MedLine Citation:
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PMID: 9032640 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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J E Morton; S Bundey; T P Webb; F MacDonald; P M Rindl; S Bullock |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Journal of medical genetics Volume: 34 ISSN: 0022-2593 ISO Abbreviation: J. Med. Genet. Publication Date: 1997 Jan |
Date Detail:
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Created Date: 1997-04-10 Completed Date: 1997-04-10 Revised Date: 2010-09-13 |
Medline Journal Info:
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Nlm Unique ID: 2985087R Medline TA: J Med Genet Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 1-5 Citation Subset: IM |
Affiliation:
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Clinical Genetics Unit, Birmingham Women's Hospital, Edgbaston, UK. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Blotting, Southern Child Cytogenetics Diagnosis, Differential Female Fragile X Syndrome / diagnosis, epidemiology* Genetic Testing* Great Britain / epidemiology Humans In Situ Hybridization Intelligence Tests Male Mental Retardation / diagnosis, etiology Prevalence Sex Chromosome Aberrations X Chromosome* |
| Comments/Corrections | |
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