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Dystonia in a patient with ring chromosome 21
Author(s) -
Hou Craig E.,
Schlaggar Bradley L.,
Racette Brad A.
Publication year - 2003
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.10621
Subject(s) - dystonia , ring chromosome , chromosome , karyotype , cervical dystonia , genetics , medicine , pediatrics , biology , psychiatry , gene
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. © 2003 Movement Disorder Society