Close linkage of the Wieacker-Wolff syndrome to the DNA segment DXYS1 in proximal Xq.
Linkage studies with RFLPs were performed in a large family in which the Wieacker-Wolff syndrome is segregating. In this new syndrome (McKusick, 1986, No. 31458) patients have congenital contractures, progressive neuropathic muscle atrophy, involving also some cranial nerves with oculomotor apraxia and dyspraxia of the face and tongue muscles, and mental retardation. This is an X-linked recessive syndrome. We found close linkage between the syndrome locus and the DNA segment DXYS1 (z = 3.225 at theta = 0.0) in proximal Xq.
D003286:Contracture / Q000235:genetics*; D003391:Cranial Nerves / Q000503:physiopathology; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009133:Muscular Atrophy / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D013577:Syndrome; D014960:X Chromosome / Q000648:ultrastructure*