Article Text

Download PDFPDF
Bilateral split hand/foot malformation and inv(7)(p22q21.3).
  1. J M Cobben,
  2. J B Verheij,
  3. W H Eisma,
  4. P H Robinson,
  5. R P Zwierstra,
  6. B Leegte,
  7. S Castedo
  1. Department of Surgery, University Hospital and Faculty of Medicine, Groningen, The Netherlands.

    Abstract

    A boy with typical tetramelic split hands and feet is described. In addition, there was a large arteriovenous malformation of the right arm. Chromosome studies showed a pericentric inversion of chromosome 7: 46,XY,inv(7)(p22q21.3). Inspection of the extremities and chromosome studies in the parents were normal. This case confirms the suggested localisation of a locus, important for early limb differentiation, on the long arm of chromosome 7, most probably in the chromosomal region 7q21.2-7q21.3. Previously reported cases are reviewed briefly.

    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.