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

  title={Cerebral gigantism (Sotos syndrome) in two patients with fra(X) chromosomes.},
  author={Frits A. Beemer and H C Veenema and Joke de Pater},
  journal={American journal of medical genetics},
  volume={23 1-2},
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… CONTINUE READING

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