You are here

Article Text

Article menu
Download PDFPDF
Research Article
A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat.
  1. W el-Rifai,
  2. J Leisti,
  3. M Kähkönen,
  4. A Pietarinen,
  5. M R Altherr,
  6. S Knuutila
  1. Department of Medical Genetics, University of Helsinki, Finland.

    Abstract

    We present here a 7 year old girl with the clinical signs of Wolf-Hirschhorn syndrome (WHS). Only on high resolution banding was a deletion of 4p16.3 suspected in both the proband and the father. Further studies using simultaneous R banding and FISH, with cosmid probe pc847.351 containing the mildly repetitive fragment 847-EC, confirmed the diagnosis and showed a paternal balanced translocation t(4;8)(p16.3;q24.3).

    https://doi.org/10.1136/jmg.32.1.65

    Statistics from Altmetric.com

      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.