title: Localization of the gene for a syndrome of X-linked skeletal dysplasia and mental retardation to Xq27-qter.
abstract: An Indiana family segregating a syndrome of X-linked mental retardation and skeletal anomalies was tested for linkage of the mutant gene to X-chromosome molecular markers. Lod scores of 3.27 and 3.06 (theta = 0) for the molecular probes St14-1 (DXS52) and Dx13 (DXS15), respectively, indicate that the disease gene is located in the terminal portion of Xq.
authors.forename: S R
authors.initials: SR
authors.lastname: Dlouhy
authors.forename: J C
authors.initials: JC
authors.lastname: Christian
authors.forename: J L
authors.initials: JL
authors.lastname: Haines
authors.forename: P M
authors.initials: PM
authors.lastname: Conneally
authors.forename: M E
authors.initials: ME
authors.lastname: Hodes
mesh_terms: D001848:Bone Diseases, Developmental / Q000235:genetics*; D002871:Chromosome Banding; D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D014960:X Chromosome
chemical_list: D005819:Genetic Markers