title: Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity.
abstract: Pfeiffer syndrome (PS) is an autosomal dominant disorder characterized by craniosynostosis, midfacial hypoplasia, and broad thumbs and great toes. We examined 129 individuals from 11 families with PS and performed linkage studies using microsatellite markers spanning the entire genome. Strongest support for linkage was with DNA markers (D8S255, GATA8G08) from chromosome 8. Obligate crossovers exclude close linkage to this region in six families, and there was significant evidence for genetic heterogeneity. A multipoint lod score of 7.15 was obtained in five families. The 11 cM interval between D8S278 and D8S285 contains one gene for PS and also spans the centromere of chromosome 8.
authors.affiliation: Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia 19104-4399.
authors.forename: N H
authors.initials: NH
authors.lastname: Robin
authors.forename: G J
authors.initials: GJ
authors.lastname: Feldman
authors.forename: H F
authors.initials: HF
authors.lastname: Mitchell
authors.forename: P
authors.initials: P
authors.lastname: Lorenz
authors.forename: R S
authors.initials: RS
authors.lastname: Wilroy
authors.forename: E H
authors.initials: EH
authors.lastname: Zackai
authors.forename: J E
authors.initials: JE
authors.lastname: Allanson
authors.forename: E W
authors.initials: EW
authors.lastname: Reich
authors.forename: R A
authors.initials: RA
authors.lastname: Pfeiffer
authors.forename: L A
authors.initials: LA
authors.lastname: Clarke
mesh_terms: D000168:Acrocephalosyndactylia / Q000235:genetics*; D002503:Centromere / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D003434:Crossing Over, Genetic / Q000235:genetics; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D018740:Genetic Heterogeneity; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree