Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: Microcephaly, developmental delay and delayed bone age

Han Zhang, Xianglan Lu, Julie Beasley, John J. Mulvihill, Ruizhi Liu, Shibo Li, Ji Yun Lee

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15 Citations (Scopus)


Haploinsufficiency of the NSD1 gene due to 5q35 microdeletions or intragenic mutations is the major cause of Sotos syndrome characterized by generalized overgrowth, large hands and feet with advanced bone age, craniofacial dysmorphic features, learning disability, and possible susceptibility to tumors. Here, we report on a 14-month-old boy with a reverse phenotype of Sotos syndrome due to the reciprocal duplication of the 5q35.3 region, including the NSD1 gene, detected by array CGH. The phenotype includes delayed bone age, microcephaly, seizures, and failure to thrive. Our case suggests that the gene dosage effect of the NSD1 gene is the likely cause for the reversed phenotype of Sotos syndrome in this patient.

Original languageEnglish
Pages (from-to)1374-1378
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Issue number6
Publication statusPublished - 2011 Jun 1



  • 5q35
  • Array CGH
  • Duplication
  • FISH
  • NSD1
  • Sotos syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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