| The fragile X syndrome: history, diagnosis, and treatment. | |
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MedLine Citation:
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PMID: 6348096 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The fragile X (marker X) syndrome is a relatively common form of X-linked mental retardation. The karyotypic hallmark of the syndrome consists of a pronounced constriction near the terminus of the long arm of the X chromosome (fragile site), expressed in vitro only under conditions where thymidylate production is blocked (reduced folate levels and/or addition of methotrexate or 5-fluorodeoxyuridine). Clinical features associated with the syndrome include macroorchidism, large or prominent ears, and significant emotional dysfunction. In the present review, historical, diagnostic, biochemical, and clinical aspects of this syndrome are presented. Recent anecdotal reports of clinical improvement following high dose folic acid treatment will be discussed. |
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Authors:
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R J Hagerman; P McBogg; P J Hagerman |
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Publication Detail:
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Type: Historical Article; Journal Article; Review |
Journal Detail:
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Title: Journal of developmental and behavioral pediatrics : JDBP Volume: 4 ISSN: 0196-206X ISO Abbreviation: J Dev Behav Pediatr Publication Date: 1983 Jun |
Date Detail:
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Created Date: 1983-09-23 Completed Date: 1983-09-23 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 8006933 Medline TA: J Dev Behav Pediatr Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 122-30 Citation Subset: IM; Q |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Australia Canada Chromosome Fragile Sites Chromosome Fragility Folic Acid / therapeutic use Fragile X Syndrome / diagnosis*, drug therapy, history Genetic Markers Heterozygote History, 19th Century History, 20th Century Humans Prenatal Diagnosis Sex Chromosome Aberrations / diagnosis* United States |
| Chemical | |
Reg. No./Substance:
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0/Genetic Markers; 59-30-3/Folic Acid |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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