Clinical, neuroimaging and cytogenetic findings in 20 patients with corpus callosum dysgenesis.
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.
Unidade de Genética e Biologia Molecular, CCBS, UNIRIO, Rio de Janeiro, RJ, Brazil.
Anna Cláudia Evangelista
AC
dos Santos
Sônia Regina
SR
Midleton
Regina Lugarinho
RL
Fonseca
Suely Rodrigues
SR
dos Santos
Juan Clinton
JC
Llerena
Fernando Regla
FR
Vargas
D061085:Agenesis of Corpus Callosum; D001927:Brain Diseases / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D002898:Chromosomes, Human, Pair 8; D020732:Cytogenetic Analysis / Q000379:methods; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D014314:Trisomy / Q000175:diagnosis