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Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects.

ABSTRACT: 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.

SUBMITTER: Arelin M

PROVIDER: S-EPMC3598323 | biostudies-literature | 2013 Apr

REPOSITORIES: biostudies-literature

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Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects.

Arélin Maria M Schulze Bernt B Müller-Myhsok Bertram B Horn Denise D Diers Alexander A Uhlenberg Birgit B Nürnberg Peter P Nürnberg Gudrun G Becker Christian C Mundlos Stefan S Lindner Tom H TH Sperling Karl K Hoffmann Katrin K

European journal of human genetics : EJHG 20121003 4

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 ...[more]

PMID: 23032112

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Project description:This SuperSeries is composed of the SubSeries listed below.

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