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.
dos Santos
Anna Cláudia Evangelista
AC
Unidade de Genética e Biologia Molecular, CCBS, UNIRIO, Rio de Janeiro, RJ, Brazil.
Midleton
Sônia Regina
SR
Fonseca
Regina Lugarinho
RL
dos Santos
Suely Rodrigues
SR
Llerena
Juan Clinton
JC
Vargas
Fernando Regla
FR
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