Dystonia in a patient with ring chromosome 21.
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.
Hou
Craig E
CE
Department of Neurology and Neurological Surgery, Washington University School of Medicine, St Louis, Missouri 63110, USA.
Schlaggar
Bradley L
BL
Racette
Brad A
BA
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
D009465:Neuromuscular Agents; D019274:Botulinum Toxins, Type A