Child with Sotos phenotype and a 5:15 translocation

Am J Med Genet. 1994 Apr 15;50(3):291-3. doi: 10.1002/ajmg.1320500313.

Abstract

We report on a 4-year-old girl with Sotos phenotype and a de novo balanced translocation between the long arms of chromosome 5 and chromosome 15 [46,XX,t(5,15)(q35;q22)]. We suggest a relationship between genetic material at 5q35 or 15q22 and the expression of an autosomal dominant gene.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosomes, Human, Pair 15 / ultrastructure*
  • Chromosomes, Human, Pair 5 / ultrastructure*
  • Face / abnormalities*
  • Female
  • Fingers / abnormalities
  • Genes, Dominant*
  • Gigantism / genetics*
  • Head / abnormalities*
  • Humans
  • Infant, Newborn
  • Palate / abnormalities
  • Phenotype
  • Psychomotor Disorders / genetics
  • Syndrome
  • Translocation, Genetic*