| Systematic screening for fragile X syndrome in a cohort of 574 mentally retarded children. | |
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MedLine Citation:
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PMID: 9401101 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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In this study, we evaluated the prevalence of the fragile X syndrome in a cohort of 574 mentally retarded children. The only inclusion criterion was the diagnosis of mental retardation according to the DSM-IIIR classification. We used a PCR-based strategy for the diagnosis of fragile X syndrome to facilitate systematic screening. This diagnostic scheme is based on an initial PCR to eliminate most fragile X-negative patients followed by Southern blotting for fragile X syndrome diagnosis. Altogether, 403 boys and 171 girls were tested. The prevalence of this genetic disorder was 1.9% (11/574) in the whole cohort and 2.5% (10/403) in boys. Only one case of fragile X syndrome was detected among the 171 girls tested (0.6%). Clinical examination, especially in the youngest children, was often unremarkable, and the only reason for suspecting fragile X syndrome was the presence of mental retardation. Thus, a systematic screening for the fragile X syndrome in mentally retarded children seems justified because of the importance of a precise diagnosis in genetic counseling. |
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Authors:
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B Gérard; M F Le Heuzey; G Brunie; P Lewine; M C Saiag; V Cacheux; F Da Silva; M Dugas; M C Mouren-Simeoni; J Elion; B Grandchamp |
Publication Detail:
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Type: Clinical Trial; Journal Article |
Journal Detail:
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Title: Annales de génétique Volume: 40 ISSN: 0003-3995 ISO Abbreviation: Ann. Genet. Publication Date: 1997 |
Date Detail:
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Created Date: 1998-01-14 Completed Date: 1998-01-14 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 0370562 Medline TA: Ann Genet Country: FRANCE |
Other Details:
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Languages: eng Pagination: 139-44 Citation Subset: IM |
Affiliation:
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Laboratoire de Biochimie Génétique, Hôpital Robert Debré, Paris, France. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Child Child, Preschool Female Fragile X Syndrome / epidemiology, genetics* Genetic Testing / methods* Humans Male Mental Retardation / genetics* Prevalence |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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