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A male infant with holoprosencephaly, associated with ring chromosome 21

✍ Scribed by D. C. Aronson; M. C. E. Jansweijer; J. M. N. Hoovers; P. G. Barth

Book ID: 115089546
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 361 KB
Volume: 31
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.1987.tb02766.x

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## 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. © 2003 Mo