Neurological complications of the ring (22) syndrome: a case report.
The first Japanese case of the ring (22) syndrome was described. The patient had diffuse neurological involvement of the central, peripheral nerves and muscles in addition to the phenotypical characteristics of this syndrome.
D002648:Child; D002872:Chromosome Deletion; D002904:Chromosomes, Human, 21-22 and Y; D006801:Humans; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics; D009133:Muscular Atrophy / Q000235:genetics; D009422:Nervous System Diseases / Q000235:genetics*; D010641:Phenotype