| Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation. | |
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MedLine Citation:
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PMID: 8100582 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Direct DNA analysis of the fragile X mutation has become available with the isolation of DNA probes that detect the unstable DNA sequence containing the CGG repeat. We present the various alternatives of combinations of probes and enzymes that can be used for the diagnosis of fragile X syndrome. An overview is given of all the different available probes. A different protocol is presented for postnatal and prenatal diagnosis of fragile X syndrome. This includes Southern blot analysis as well as direct analysis of the CGG repeat by PCR amplification. We discuss the role of constitutional cytogenetic analysis in the diagnosis of mentally retarded subjects and cytogenetic analysis for the diagnosis of fragile X syndrome. |
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Authors:
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B A Oostra; P B Jacky; W T Brown; F Rousseau |
Publication Detail:
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Type: Guideline; Journal Article; Practice Guideline |
Journal Detail:
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Title: Journal of medical genetics Volume: 30 ISSN: 0022-2593 ISO Abbreviation: J. Med. Genet. Publication Date: 1993 May |
Date Detail:
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Created Date: 1993-08-05 Completed Date: 1993-08-05 Revised Date: 2010-09-13 |
Medline Journal Info:
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Nlm Unique ID: 2985087R Medline TA: J Med Genet Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 410-3 Citation Subset: IM |
Affiliation:
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Department of Cell Biology, Erasmus University, Rotterdam, The Netherlands. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Blotting, Southern DNA / analysis DNA Probes / diagnostic use Female Fragile X Syndrome / diagnosis* Humans Infant Male Polymerase Chain Reaction Polymorphism, Restriction Fragment Length Pregnancy Prenatal Diagnosis Repetitive Sequences, Nucleic Acid Restriction Mapping |
| Chemical | |
Reg. No./Substance:
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0/DNA Probes; 9007-49-2/DNA |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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