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Cerebral gigantism with histone methyl transferase abnormality: Sotos syndrome

✍ Scribed by Naomichi Matsumoto


Book ID
116774961
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
72 KB
Volume
58
Category
Article
ISSN
0168-0102

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Apparent Sotos syndrome (cerebral gigant
✍ Faivre, Laurence; Viot, GοΏ½raldine; Prieur, Marguerite; Turleau, Catherine; Gosse πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 23 KB πŸ‘ 2 views

We report on a child with apparent Sotos syndrome (cerebral gigantism) and partial duplication of the short arm of chromosome 20 mosaicism. Trisomy 20p11.2-p12.1 was diagnosed using cytogenetic and FISH studies. The somatostatin receptor 4 (SSTR4) gene is included in the duplicated segment. This sug