| Molecular pathology of the fragile X syndrome. | |
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MedLine Citation:
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PMID: 8239933 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Fragile X syndrome is the most common form of familial mental retardation (one in 1250 males and one in 2500 females, characterized by prominent dysmorphic features, macro-orchidism, and varying degrees of mental retardation. Diagnosis of this syndrome has relied on cytogenetic demonstration of the fragile site at position Xq27.3. A gene associated with the fragile X syndrome, FMR-1, has been isolated and mapped to the region of the X chromosome that corresponds to the region of the fragile site. Expansion of a trinucleotide repeat, CGG, and abnormal methylation of a CpG island account for the majority of mutations identified in FMR-1. These molecular characteristics have greatly enhanced the identification of affected individuals and carriers of the premutation who were not detected cytogenetically. |
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Authors:
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G J Tsongalis; L M Silverman |
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Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Archives of pathology & laboratory medicine Volume: 117 ISSN: 0003-9985 ISO Abbreviation: Arch. Pathol. Lab. Med. Publication Date: 1993 Nov |
Date Detail:
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Created Date: 1993-12-07 Completed Date: 1993-12-07 Revised Date: 2005-11-16 |
Medline Journal Info:
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Nlm Unique ID: 7607091 Medline TA: Arch Pathol Lab Med Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 1121-5 Citation Subset: AIM; IM |
Affiliation:
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Department of Hospital Laboratories and Pathology, University of North Carolina Hospitals, Chapel Hill. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Blotting, Southern Cytogenetics Female Fragile X Syndrome / diagnosis, genetics* Gene Expression Humans Male Mutation Pedigree |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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