title: No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome families.
abstract: A linkage analysis has been performed on 6 two-generation families with classical Noonan syndrome to determine whether the syndrome is linked to neurofibromatosis type 1 on chromosome 17q or to neurofibromatosis type 2 on chromosome 22q. A significantly negative location score was obtained between 10 cM centromeric to and 15 cM telomeric from the neurofibromatosis type 1 locus. A significantly negative lod score was obtained with a marker mapping within the region where neurofibromatosis type 2 is thought to be located. These data indicate that Noonan syndrome is not tightly linked to either neurofibromatosis type 1 or type 2.
authors.affiliation: Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM, Paris, France.
authors.forename: W F
authors.initials: WF
authors.lastname: Flintoff
authors.forename: M
authors.initials: M
authors.lastname: Bahuau
authors.forename: S
authors.initials: S
authors.lastname: Lyonnet
authors.forename: S
authors.initials: S
authors.lastname: Gilgenkrantz
authors.forename: D
authors.initials: D
authors.lastname: Lacombe
authors.forename: F
authors.initials: F
authors.lastname: Marçon
authors.forename: J
authors.initials: J
authors.lastname: Levilliers
authors.forename: J
authors.initials: J
authors.lastname: Kachaner
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: M
authors.initials: M
authors.lastname: Le Merrer
mesh_terms: D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D002892:Chromosomes, Human, Pair 22; D005260:Female; D016514:Genes, Neurofibromatosis 1; D016515:Genes, Neurofibromatosis 2; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009634:Noonan Syndrome / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic