| Genetic assessment following increased nuchal translucency and normal karyotype. | |
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MedLine Citation:
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PMID: 21321969 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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OBJECTIVE: The objective of this study was to assess the first formal approach for monitoring genetic/developmental syndromes associated with the presence of an increased nuchal translucency (NT) thickness (>3 mm) in the first trimester of pregnancy. METHODS: Multiple technologies-a DNA chip using the APEX technology, qPCR, microfluidic PCR, and sequencing-were applied to assay 310 mutations across five conditions-Noonan syndrome, congenital adrenal hyperplasia, spinal muscular atrophy (SMA), DiGeorge syndrome, and Smith-Lemli Opitz syndrome. RESULTS: We report the results of assessing the first 120 patients in which 8 cases of Noonan syndrome were detected as well as an unusually high rate of heterozygosity for SMA. CONCLUSION: While testing for Noonan syndrome in association with increased NT appears warranted, the reported association of the remaining four genetic syndromes is likely to be weak and possibly insignificant. Copyright © 2011 John Wiley & Sons, Ltd. |
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Authors:
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Eugene Pergament; Christina Alamillo; Katrin Sak; Morris Fiddler |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-2-15 |
Journal Detail:
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Title: Prenatal diagnosis Volume: - ISSN: 1097-0223 ISO Abbreviation: - Publication Date: 2011 Feb |
Date Detail:
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Created Date: 2011-2-15 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8106540 Medline TA: Prenat Diagn Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011 John Wiley & Sons, Ltd. |
Affiliation:
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Northwestern Reproductive Genetics, Chicago, IL, USA. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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