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

We report on a child with apparent Sotos syndrome (cerebral gigantism) and partial duplication of the short arm of chromosome 20 mosaicism, Trisomy 20 p11.2-p12.1 was diagnosed using cytogenetic and FISH studies. The somatosta tin receptor 4 (SSTR4) gene is included in the duplicated segment. This sug gests that a dosage effect of this gene might be related to some of the cli nical findings observed in our patient. The present observation emphasizes the importance of chromosome analysis in patients with well-delineated but sporadic conditions. (C) 2000 Wiley-Liss, Inc.