Article
Cortical dysgenesis in 2 patients with chromosome 22q11 deletion.
Clinical genetics - 1 Jul 2000
Bird L M, Scambler P
Abstract excerpt
Two patients with chromosome 22q11 deletion and cortical dysgenesis (gyral abnormalities) are reported in this study. One had unilateral clubfoot in addition to multiple features suggestive of the Di George syndrome (DGS), and the other presented with leg asymmetry and seizures, with subsequent recognition of the velo-cardio-facial syndrome (VCFS). In each patient, gyral abnormalities were identified in the...
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