| Characterisation of a new rare fragile site easily confused with the fragile X. | |
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MedLine Citation:
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PMID: 1301146 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A new fragile site (FRAXE) in Xq28 is described. It appears to be a typical folate sensitive fragile site. The fragile site is not associated with mental retardation, it does not give abnormal results when subjected to Southern analysis with probe pfxa3 which detects the unstable DNA sequence characteristic of fragile X syndrome. In situ hybridization mapping locates the fragile site between 150 kb and 600 kb distal to FRAXA. The distinction between the two fragile sites is important clinically since cytogenetic detection of FRAXE, without molecular analysis, could result in misdiagnosis of fragile X syndrome. |
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Authors:
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G R Sutherland; E Baker |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Human molecular genetics Volume: 1 ISSN: 0964-6906 ISO Abbreviation: Hum. Mol. Genet. Publication Date: 1992 May |
Date Detail:
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Created Date: 1993-05-28 Completed Date: 1993-05-28 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 9208958 Medline TA: Hum Mol Genet Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 111-3 Citation Subset: IM |
Affiliation:
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Department of Cytogenetics and Molecular Genetics, Adelaide Children's Hospital, Australia. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Cells, Cultured Chromosome Aberrations / diagnosis, genetics* Chromosome Disorders Chromosome Fragile Sites Chromosome Fragility* Chromosome Mapping Diagnostic Errors Female Fragile X Syndrome / diagnosis, genetics* Humans Male Pedigree X Chromosome* |
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