| ACOG committee opinion. No. 338: Screening for fragile X syndrome. | |
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MedLine Citation:
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PMID: 16738187 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Fragile X syndrome is the most common inherited form of mental retardation, affecting approximately 1 in 4,000 males and 1 in 8,000 females. DNA-based molecular analysis is the preferred method of diagnosis for fragile X syndrome and its premutations. Prenatal testing for fragile X syndrome should be offered to known carriers of the premutation or mutation. Testing for fragile X syndrome should be considered for any child with developmental delay of uncertain etiology, autism, or autistic behavior or for any individual with mental retardation of uncertain etiology. Women with ovarian failure or an elevated follicle-stimulating hormone level before 40 years of age without a known cause should be screened to determine whether they have the fragile X premutation. |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Obstetrics and gynecology Volume: 107 ISSN: 0029-7844 ISO Abbreviation: Obstet Gynecol Publication Date: 2006 Jun |
Date Detail:
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Created Date: 2006-06-01 Completed Date: 2006-07-07 Revised Date: 2009-10-26 |
Medline Journal Info:
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Nlm Unique ID: 0401101 Medline TA: Obstet Gynecol Country: United States |
Other Details:
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Languages: eng Pagination: 1483-5 Citation Subset: AIM; IM |
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| MeSH Terms | |
Descriptor/Qualifier:
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DNA Methylation Fragile X Syndrome / diagnosis*, genetics Humans Mutation |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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