Apparent Sotos syndrome (cerebral gigant
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Faivre, Laurence; Viot, GοΏ½raldine; Prieur, Marguerite; Turleau, Catherine; Gosse
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Article
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2000
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John Wiley and Sons
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English
β 23 KB
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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