Cerebral gigantism (Sotos syndrome) in two patients with fra(X) chromosomes

Two boys were studied who had a large size at birth and/or overgrowth, unusual length, large head circumference and minor anomalies, mainly facial. Their mental development appeared mildly retarded. A clinical diagnosis of cerebral gigantism (Sotos syndrome) was made. However, subsequent chromosome studies (medium 199, with 5% fetal calf serum) showed fra(X) (q27) in 4 and 6% of cells, respectively. These observations give evidence for genetic heterogeneity in cerebral gigantism. Fra(X) studies are recommended in all cases of cerebral gigantism (Sotos syndrome).