title: Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedion syndrome.
abstract: The anonymous DNA probe L32, which defines the D8S48 locus within the Langer-Giedion syndrome chromosome region on the long arm of chromosome 8, was used to search for a common restriction fragment length polymorphism. A HindIII and an MspI polymorphism were detected (polymorphism information contents 0.25 and 0.19, respectively). Both polymorphisms were informative in the family of a Langer-Giedion patient carrying a de novo interstitial deletion 8q23-24.1. Lack of transmission of a maternal haplotype indicates that this deletion occurred during maternal gametogenesis. This finding contrasts with the frequent paternal origin of mutations in other microdeletion syndromes.
authors.affiliation: Institut für Humangenetik, Universitätsklinikum, Essen, Federal Republic of Germany.
authors.forename: H J
authors.initials: HJ
authors.lastname: Lüdecke
authors.forename: R
authors.initials: R
authors.lastname: Burdiek
authors.forename: G
authors.initials: G
authors.lastname: Senger
authors.forename: U
authors.initials: U
authors.lastname: Claussen
authors.forename: E
authors.initials: E
authors.lastname: Passarge
authors.forename: B
authors.initials: B
authors.lastname: Horsthemke
mesh_terms: D002871:Chromosome Banding; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006801:Humans; D008297:Male; D009035:Mothers; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D005819:Genetic Markers