| A girl with fragile X premutation from sperm donation. | |
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MedLine Citation:
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PMID: 18286596 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We present a girl with the fragile X premutation who obtained the premutation allele from donated sperm. Our patient has clinical characteristics of fragile X syndrome including emotional problems and neuropsychological difficulties presenting as learning disabilities. She is also at high risk for premature ovarian failure and low risk for the fragile X-associated tremor ataxia (FXTAS). We suggest fragile X DNA screening in gamete donor candidates to decrease the chance of fragile X involvement in their offspring. |
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Authors:
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Juthamas Wirojanan; Kathleen Angkustsiri; Flora Tassone; Louise W Gane; Randi J Hagerman |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S. |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 146 ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2008 Apr |
Date Detail:
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Created Date: 2008-04-02 Completed Date: 2008-08-08 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 888-92 Citation Subset: IM |
Copyright Information:
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Copyright 2008 Wiley-Liss, Inc. |
Affiliation:
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MIND Institute, University of California-Davis Medical Center, Sacramento, California 95817, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Child Female Fragile X Mental Retardation Protein / genetics* Fragile X Syndrome / genetics* Humans Male Mutation* Spermatozoa* Tissue Donors* |
| Grant Support | |
ID/Acronym/Agency:
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HD02274/HD/NICHD NIH HHS; HD36071/HD/NICHD NIH HHS; NS044299/NS/NINDS NIH HHS; U10/CCU925123//PHS HHS |
| Chemical | |
Reg. No./Substance:
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0/FMR1 protein, human; 139135-51-6/Fragile X Mental Retardation Protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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