| Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects. | |
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MedLine Citation:
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PMID: 23032112 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Genome-wide linkage analysis is an established tool to map inherited diseases. To our knowledge it has not been used in prenatal diagnostics of any genetic disorder. We present a family with a severe recessive mental retardation syndrome, where the mother wished pregnancy termination to avoid delivering another affected child. By genome-wide scanning using the Affymetrix (Santa Clara, CA, USA) 10k chip we were able to establish the disease haplotype. Without knowing the exact genetic defect, we excluded the condition in the fetus. The woman finally gave birth to a healthy baby. We suggest that genome-wide linkage analysis - based on either SNP mapping or full-genome sequencing - is a very useful tool in prenatal diagnostics of diseases.European Journal of Human Genetics advance online publication, 3 October 2012; doi:10.1038/ejhg.2012.198. |
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Authors:
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Maria Arélin; Bernt Schulze; Bertram Müller-Myhsok; Denise Horn; Alexander Diers; Birgit Uhlenberg; Peter Nürnberg; Gudrun Nürnberg; Christian Becker; Stefan Mundlos; Tom H Lindner; Karl Sperling; Katrin Hoffmann |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-10-03 |
Journal Detail:
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Title: European journal of human genetics : EJHG Volume: - ISSN: 1476-5438 ISO Abbreviation: Eur. J. Hum. Genet. Publication Date: 2012 Oct |
Date Detail:
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Created Date: 2012-10-3 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9302235 Medline TA: Eur J Hum Genet Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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1] Institute of Human Genetics, Charité University Medicine Berlin, Berlin, Germany [2] Department of Women and Child Health, Hospital for Children and Adolescents, University Hospital, University of Leipzig, Leipzig, Germany. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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