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).
D000293:Adolescent; D005145:Face / Q000002:abnormalities; D005600:Fragile X Syndrome / Q000150:complications* / Q000235:genetics; D005877:Gigantism / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D012729:Sex Chromosome Aberrations / Q000150:complications*; D013577:Syndrome