Clinical, neuroimaging and cytogenetic findings in 20 patients with corpus callosum dysgenesis

Arquivos de Neuro-Psiquiatria

Anna Cláudia Evangelista Dos Santos²  Sônia Regina Midleton²  Regina Lugarinho Fonseca²  Suely Rodrigues Dos Santos²  Juan Clinton Llerena Jr.¹  Fernando Regla Vargas² 

[1] ,UNIRIO CCBS Unidade de Genética e Biologia MolecularRio de Janeiro RJ ,Brazil

关键词: corpus callosum agenesis;    chromosomal anomaly;    trisomy 8;    disgenesia do corpo caloso;    anomalia cromossômica;    trissomia 8;   

DOI  :  10.1590/S0004-282X2002000300008

来源: SciELO

【 摘 要 】

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.

【 授权许可】

CC BY   
 All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License