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Clinical,neuroimaging and cytogenetic findings in 20 patients with corpus callosum dysgenesis |
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| Authors: | dos Santos Anna Cláudia Evangelista Midleton Sônia Regina Fonseca Regina Lugarinho dos Santos Suely Rodrigues Llerena Juan Clinton Vargas Fernando Regla |
| Affiliation: | Unidade de Genética e Biologia Molecular, CCBS, UNIRIO, Rio de Janeiro, RJ, Brazil. |
| Abstract: | Twenty children with corpus callosum agenesis or hypoplasia were evaluated under a standardized investigation protocol. Psychomotor retardation, seizures, and craniofacial anomalies were the most prominent findings. There were three cases of chromosomal anomalies, all of them representing trisomy of chromosome 8. |
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