Holoprosencephaly associated with ring chromosome 21
โ Scribed by J. M. N. Hoovers; M. C. E. Jansweijer
- Book ID
- 115089689
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 38 KB
- Volume
- 32
- Category
- Article
- ISSN
- 0009-9163
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Recently, an 11 year-old girl was reported with fusion of the cerebral hemispheres (holoprosencephaly), and cerebellar hemispheres (rhombencephalosynapsia), without identifiable ventricles. The condition was named as aventriculi. In this paper, the second example of aventriculi is reported in a 1 mo
## 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, โ21, who developed childhood onset cervical dystonia. ยฉ 2003 Mo