Localization of the gene for a syndrome of X-linked skeletal dysplasia and mental retardation to Xq27-qter.
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.
Dlouhy
S R
SR
Christian
J C
JC
Haines
J L
JL
Conneally
P M
PM
Hodes
M E
ME
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
D005819:Genetic Markers