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.
D001921:Brain / Q000473:pathology; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002905:Chromosomes, Human, 4-5 / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D009422:Nervous System Diseases / Q000235:genetics / Q000473:pathology