Document Detail

Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects.
MedLine Citation:
PMID:  23032112     Owner:  NLM     Status:  MEDLINE    
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.
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:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2012-10-03
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  21     ISSN:  1476-5438     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2013 Apr 
Date Detail:
Created Date:  2013-03-14     Completed Date:  2013-09-04     Revised Date:  2014-04-01    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  367-72     Citation Subset:  IM    
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MeSH Terms
Genes, Recessive
Genetic Linkage*
Genome, Human*
Genome-Wide Association Study*
Intellectual Disability / diagnosis*,  genetics
Polymorphism, Single Nucleotide
Prenatal Diagnosis / methods*
Young Adult

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