X-linked mental retardation with dystonic movements of the hands.
We describe a family with a syndrome of mental retardation, dystonic movements of the hands and dysarthria inherited in an X-linked recessive pattern. DNA marker studies gave a maximum lod score of 2.11 at theta of 0.00 for DXS41 with a likely localization of the gene to Xpter----Xp21.
Partington
M W
MW
Department of Medical Genetics, Prince of Wales Children's Hospital, Randwick, Sydney, New South Wales.
Mulley
J C
JC
Sutherland
G R
GR
Hockey
A
A
Thode
A
A
Turner
G
G
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D015342:DNA Probes; D004421:Dystonia / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006225:Hand; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome
D015342:DNA Probes; D005819:Genetic Markers