Title: Cerebral gigantism (Sotos syndrome) in two patients with fra(X) chromosomes
Abstract: Abstract 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).
Publication Year: 1986
Publication Date: 1986-01-01
Language: en
Type: article
Indexed In: ['crossref', 'pubmed']
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Cited By Count: 46
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