title: A family with the Coffin Lowry syndrome revisited: localization of CLS to Xp21-pter.
abstract: We revisited a family with the Coffin-Lowry syndrome (CLS) first reported by Procopis and Turner in 1972. Twelve affected members are now known in 3 generations of which 9 were seen personally. DNA marker studies supported X-linkage with localization of CLS to Xp near DXS43 at p22.2-22.1 (theta = 0.001 Z = 2.71). Such linkage is reinforced by positive lod scores for DXS28 (theta = 0.00, Z = 0.90) and for DXS84 (theta = 0.09, Z = 1.56). Recombination with DXS84 and DXS164 places CLS distal to DMD in Xp21-pter.
authors.affiliation: Department of Medical Genetics, Prince of Wales Children's Hospital, Randwick, New South Wales, Australia.
authors.forename: M W
authors.initials: MW
authors.lastname: Partington
authors.forename: J C
authors.initials: JC
authors.lastname: Mulley
authors.forename: G R
authors.initials: GR
authors.lastname: Sutherland
authors.forename: A
authors.initials: A
authors.lastname: Thode
authors.forename: G
authors.initials: G
authors.lastname: Turner
mesh_terms: D000328:Adult; D000368:Aged; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome
chemical_list: D005819:Genetic Markers