Neurological and neuropathological findings in ring chromosome 4

Despite the fact that mental retardation, microcephaly, seizures, and hyperactivity are common in patients with ring chromosome 4, little has been written about the underlying neuropathology. We describe a 6-year-old girl whose neuropathological findings included low brain weight, abnormal gyral development, and heterotopic neurons. The significance of these findings in regard to other retardation syndromes is discussed.