Cortical dysgenesis in 2 patients with chromosome 22q11 deletion

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 reco...

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Veröffentlicht in:	Clinical genetics 2000-07, Vol.58 (1), p.64-68
Hauptverfasser:	Bird, Lynne M., Scambler, Peter
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Biological and medical sciences Blotting, Southern Cerebral Cortex - abnormalities Cerebral Cortex - diagnostic imaging Child, Preschool chromosome 22q11 deletion Chromosome Deletion Chromosomes, Human, Pair 22 Complex syndromes cortical dysgenesis Di George syndrome Female Humans Magnetic Resonance Imaging Male Medical genetics Medical sciences Phenotype Shprintzen syndrome Tomography, X-Ray Computed velo-cardio-facial syndrome
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