| The fragile X in Sicily: an epidemiological survey. | |
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MedLine Citation:
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PMID: 3177477 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We have studied a group of 349 institutionalized propositi with mental retardation, and found 12 fra(X)-positive cases among 155 males (7.7%) and 8 fra(X)-positive cases among 194 females (4.1%). The males had characteristic manifestations of the Martin-Bell syndrome. Another 7 males, who were initially considered "borderline", having expression of fra(X) less than 4% and a non-characteristic phenotype, were eventually considered negative. Among 5,624 patients (2,764 males and 2,860 females) that were admitted to the Pediatric Department of the University of Catania during the period July 1986 - June 1987, 210 (120 males and 90 females) had mental retardation. Of these, 75 were analyzed for the presence of fra(X) (q27.3); 5 males (0.18% of all males) and 2 females (0.07% of all females) were fra(X)-positive. The males had the Martin Bell syndrome phenotype. The presence of fra(X) (q27) was confirmed in another 4 male propositi that were referred to our outpatient services with a clinical diagnosis of Martin-Bell syndrome. |
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Authors:
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G Neri; S Sanfilippo; L Pavone; F Mollica; I Barberi; L Giuffrè; C Romano; T Mattina; M Cammarata; M G Ragusa |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 30 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1988 May-Jun |
Date Detail:
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Created Date: 1988-11-08 Completed Date: 1988-11-08 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 665-72 Citation Subset: IM |
Affiliation:
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Istituto di Genetica Umana, UCSC, Roma, Italy. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Child Child, Preschool Epidemiologic Methods Female Fragile X Syndrome / epidemiology*, genetics Humans Italy Male Phenotype Sex Chromosome Aberrations / epidemiology* |
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