J Med Genet 28:413-414 doi:10.1136/jmg.28.6.413
  • Research Article

Deletion of chromosome 13 in Moebius syndrome.

  1. J J Slee,
  2. R D Smart,
  3. D L Viljoen
  1. Department of Human Genetics, University of Cape Town Medical School, Observatory, South Africa.


      A girl aged 2 1/2 years with Moebius syndrome was found to have a deletion of band q12.2 in chromosome 13 (46,XX,del(13)(q12.2]. This is the second report concerning involvement of chromosome 13q and Moebius syndrome. The observation raises the possibility that a gene responsible for Moebius syndrome is located in this region of chromosome 13.