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Down syndrome caused by trisomy of human chromosome 21 is one of the most common genetic diseases, occurring in 1 out of every 700 live births. In their Perspective, Nelson and Gibbs discuss a new mouse model of Down syndrome (Olson et al.), which shows that triplication of a segment of human chromosome 21 containing 33 critical-region genes does not result in the craniofacial abnormalities typical of the disease. The authors point out that this mouse model refutes the notion that triplication of the 33 critical-region genes is directly responsible for the craniofacial abnormalities of Down syndrome.
The authors are in the Department of Molecular and Human Genetics and the Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA. E-mail: nelson{at}bcm.tmc.edu
Oxidative Stress and Hematologic and Biochemical Parameters in Individuals With Down Syndrome.
M. E. Garcez, W. Peres, and M. Salvador (2005)
Mayo Clin. Proc.
80, 1607-1611
|Abstract »|PDF »
An Aneuploid Mouse Strain Carrying Human Chromosome 21 with Down Syndrome Phenotypes.
A. O'Doherty, S. Ruf, C. Mulligan, V. Hildreth, M. L. Errington, S. Cooke, A. Sesay, S. Modino, L. Vanes, D. Hernandez, et al. (2005)
Science
309, 2033-2037
|Abstract »|Full Text »|PDF »
