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Case Reports
. 2000 Apr 10;91(4):273-6.

Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism

L Faivre  1 , G Viot, M Prieur, C Turleau, P Gosset, S Romana, A Munnich, M Vekemans, V Cormier-Daire
Affiliations
  • PMID: 10766982
Case Reports

Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism

L Faivre et al. Am J Med Genet. .

Abstract

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 suggests that a dosage effect of this gene might be related to some of the clinical findings observed in our patient. The present observation emphasizes the importance of chromosome analysis in patients with well-delineated but sporadic conditions.

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