title: Dystonia in a patient with ring chromosome 21.
abstract: Dystonia associated with chromosomal abnormalities is typically attributed to chromosomal deletions. We describe a patient with ring chromosome 21, with karyotype 46XX,r(21)(p11.2q22.3); 46,XX,dic r(21)(p11.2q22.3); 45, XX, -21, who developed childhood onset cervical dystonia.
authors.affiliation: Department of Neurology and Neurological Surgery, Washington University School of Medicine, St Louis, Missouri 63110, USA.
authors.forename: Craig E
authors.initials: CE
authors.lastname: Hou
authors.forename: Bradley L
authors.initials: BL
authors.lastname: Schlaggar
authors.forename: Brad A
authors.initials: BA
authors.lastname: Racette
mesh_terms: D000015:Abnormalities, Multiple; D019274:Botulinum Toxins, Type A / Q000627:therapeutic use; D002648:Child; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D004421:Dystonia / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D009465:Neuromuscular Agents / Q000627:therapeutic use; D017354:Point Mutation / Q000235:genetics; D012303:Ring Chromosomes; D014103:Torticollis / Q000175:diagnosis* / Q000188:drug therapy
chemical_list: D009465:Neuromuscular Agents; D019274:Botulinum Toxins, Type A