| Premature ovarian failure: a phenotypic expression of fragile X premutation. | |
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MedLine Citation:
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PMID: 18323308 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Fragile X syndrome is the most common cause of mental retardation in the male. Historically, fragile X premutation was considered to be phenotypically silent. In recent reports the premutation has been associated with premature ovarian failure and fragile X-associated tremor/ataxia syndrome. This case describes a 24-year-old woman who presented with irregular menstrual cycles secondary to premature ovarian failure. Subsequent genetic analysis confirmed that she has a premutation for fragile X with 70 CGG trinucleotide repeats. |
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Authors:
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Kristin Holoch; Quinn Stein; Jason Flanagan; Keith Hansen |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: South Dakota medicine : the journal of the South Dakota State Medical Association Volume: 61 ISSN: 0038-3317 ISO Abbreviation: S D Med Publication Date: 2008 Jan |
Date Detail:
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Created Date: 2008-03-07 Completed Date: 2008-03-25 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101265265 Medline TA: S D Med Country: United States |
Other Details:
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Languages: eng Pagination: 13, 15 Citation Subset: IM |
Affiliation:
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Sanford School of Medicine of The University of South Dakota, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult DNA / genetics* Female Fragile X Mental Retardation Protein / genetics* Fragile X Syndrome / complications, genetics* Humans Menstrual Cycle Mutation* Ovarian Failure, Premature / genetics* Phenotype Pregnancy Trinucleotide Repeats / genetics* |
| Chemical | |
Reg. No./Substance:
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0/FMR1 protein, human; 139135-51-6/Fragile X Mental Retardation Protein; 9007-49-2/DNA |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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