| Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisal. | |
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MedLine Citation:
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PMID: 9132500 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Fragile X syndrome is caused by mutations in the FMR1 gene and is one of the most frequent forms of inherited mental retardation in males. Postnatal and prenatal diagnosis of fragile X syndrome is feasible by direct DNA analysis. A new approach to prenatal diagnosis of fragile X syndrome in amniotic fluid cells is described, using a rapid and simple antibody test on uncultured amniotic fluid cells. The test requires 1 ml of amniotic fluid and the results of this antibody test are available on the same day as the amniocentesis. |
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Authors:
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R Willemsen; F Los; S Mohkamsing; A van den Ouweland; W Deelen; H Galjaard; B Oostra |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Journal of medical genetics Volume: 34 ISSN: 0022-2593 ISO Abbreviation: J. Med. Genet. Publication Date: 1997 Mar |
Date Detail:
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Created Date: 1997-04-30 Completed Date: 1997-04-30 Revised Date: 2009-11-18 |
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: 250-1 Citation Subset: IM |
Affiliation:
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MGC-Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Amniocentesis Amniotic Fluid / chemistry*, cytology Female Fragile X Mental Retardation Protein Fragile X Syndrome / diagnosis* Humans Immunoassay / methods* Male Mosaicism Nerve Tissue Proteins / analysis*, genetics Pregnancy Prenatal Diagnosis / methods* RNA-Binding Proteins* |
| Chemical | |
Reg. No./Substance:
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0/FMR1 protein, human; 0/Nerve Tissue Proteins; 0/RNA-Binding Proteins; 139135-51-6/Fragile X Mental Retardation Protein |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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