Ring 14 chromosome: association with seizures.
A one-year-old male with seizures and developmental delay was found to have a ring 14 chromosome without a major band deletion. This brings the number of documented r(14) cases to seven. These patients have focal cerebral atrophy with seizures as their dominant manifestation, together with few minor facial anomalies. This combination suggests that abnormalities in the 14 chromosome may result in rather nonspecific central nervous system maldevelopment and dysfunction and raises the possibility that unexplained seizures with minor anomalies and mental retardation may warrant chromosome investigation.
D002874:Chromosome Mapping; D002901:Chromosomes, Human, 13-15; D002658:Developmental Disabilities / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D012640:Seizures / Q000235:genetics*