title: 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.
authors.affiliation: Institute of Human Genetics, Charité University Medicine Berlin, Berlin, Germany.
authors.forename: Maria
authors.initials: M
authors.lastname: Arélin
authors.forename: Bernt
authors.initials: B
authors.lastname: Schulze
authors.forename: Bertram
authors.initials: B
authors.lastname: Müller-Myhsok
authors.forename: Denise
authors.initials: D
authors.lastname: Horn
authors.forename: Alexander
authors.initials: A
authors.lastname: Diers
authors.forename: Birgit
authors.initials: B
authors.lastname: Uhlenberg
authors.forename: Peter
authors.initials: P
authors.lastname: Nürnberg
authors.forename: Gudrun
authors.initials: G
authors.lastname: Nürnberg
authors.forename: Christian
authors.initials: C
authors.lastname: Becker
authors.forename: Stefan
authors.initials: S
authors.lastname: Mundlos
authors.forename: Tom H
authors.initials: TH
authors.lastname: Lindner
authors.forename: Karl
authors.initials: K
authors.lastname: Sperling
authors.forename: Katrin
authors.initials: K
authors.lastname: Hoffmann
mesh_terms: D000293:Adolescent; D002648:Child; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D015894:Genome, Human; D055106:Genome-Wide Association Study; D006239:Haplotypes; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D055815:Young Adult