Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1)

Am J Med Genet. 2002 Jan 1;107(1):58-60. doi: 10.1002/ajmg.10080.


We describe a de novo balanced reciprocal translocation between the long arms of chromosomes 5 and 8 [46,XX,t(5;8)(q35;q24.1)] in a 15-month-old girl with a typical Sotos syndrome phenotype. Involvement of the 5q35 region was previously reported (Maroun et al. [1994: Am J Med Genet 50:291-293]) as one of translocation breakpoints in the present patient. We suggest that the gene responsible for Sotos syndrome is located to a distal long-arm region of chromosome 5.

Publication types

  • Case Reports

MeSH terms

  • Chromosomes, Human, Pair 5*
  • Chromosomes, Human, Pair 8*
  • Craniofacial Abnormalities / genetics*
  • Female
  • Humans
  • Infant
  • Syndrome
  • Translocation, Genetic*