Möbius-like syndrome associated with a 1;2 chromosome translocation

Clin Genet. 1997 Feb;51(2):122-3. doi: 10.1111/j.1399-0004.1997.tb02433.x.


We report here a rare case of Möbius-like syndrome associated with a 1;2 chromosome reciprocal translocation (46,XY,t(1;2)(p22.3;q21.1). The patient had facial diplegia, ptosis, anteverted nostrils, malformed and lowset ears, and slight developmental delay. Since a microdeletion could be present at the breakpoint in a reciprocal translocation, it is possible that the gene responsible for Möbius syndrome is located in this region of chromosome 1.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Chromosomes, Human, Pair 1*
  • Chromosomes, Human, Pair 2*
  • Developmental Disabilities / genetics
  • Ear / abnormalities
  • Facial Paralysis / genetics*
  • Female
  • Humans
  • Infant
  • Male
  • Nose / abnormalities
  • Pregnancy
  • Syndrome
  • Translocation, Genetic*