Article Text

Download PDFPDF
De novo 1;10 balanced translocation in an infant with thanatophoric dysplasia: a clue to the locus of the candidate gene.
  1. J H Hersh,
  2. F F Yen,
  3. S C Peiper,
  4. M J Barch,
  5. O A Yacoub,
  6. D H Voss,
  7. J L Roberts
  1. Department of Pediatrics, University of Louisville, Kentucky 40202, USA.


    A female infant with thanatophoric dysplasia was found to have a de novo translocation involving chromosomes 1 and 10. The chromosome abnormality may represent an important clue in identifying the locus for the candidate gene responsible for this lethal skeletal dysplasia.

    Statistics from

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.