| Low MSAFP levels and Williams syndrome. | |
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MedLine Citation:
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PMID: 9375729 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Williams syndrome (WS) is associated with a deletion of the elastin gene in over 90% of cases. We report maternal serum alpha feto-protein (MSAFP) levels in 5 women whose fetuses were later diagnosed as having WS. MSAFP levels ranged from 0.5-0.8 multiples of the median (MOM). Although further confirmation is necessary, it appears that MSAFP levels are lower than the median in WS. This apparent association has implications for counselling women following maternal serum screening. |
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Authors:
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B N Chodirker; C R Greenberg; N G Giddins; A J Dawson; J A Evans; A E Chudley |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 72 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1997 Nov |
Date Detail:
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Created Date: 1997-12-18 Completed Date: 1997-12-18 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 448-50 Citation Subset: IM |
Affiliation:
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Department of Human Genetics, University of Manitoba and Health Sciences Centre, Winnipeg, Canada. chodirk@umanitoba.ca |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Female Humans Pregnancy / blood* Prenatal Diagnosis Williams Syndrome / blood*, diagnosis alpha-Fetoproteins / metabolism* |
| Chemical | |
Reg. No./Substance:
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0/alpha-Fetoproteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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