Fetus with unbalanced translocation involving chromosomes 2 and 11

Clin Dysmorphol. 1992 Jan;1(1):53-6.

Abstract

We report a fetus with an unbalanced translocation between chromosomes 2 and 11, the product of a paternal balanced reciprocal translocation, fetal karyotype 46, XX, -11, +der(11)t(2;11) (q35;q24.1)pat. The fetus had unusual facial features. The relevance of this case to mapping of the type I Waardenburg syndrome gene is discussed.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosomes, Human, Pair 11*
  • Chromosomes, Human, Pair 2*
  • Female
  • Fetus / abnormalities*
  • Humans
  • Translocation, Genetic*
  • Waardenburg Syndrome / genetics