Article Text

Download PDFPDF
Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation.
  1. I D Young,
  2. J M Zuccollo,
  3. E L Maltby,
  4. N J Broderick
  1. Department of Clinical Genetics, City Hospital, Nottingham.

    Abstract

    A phenotypically female fetus with campomelic dysplasia and a de novo reciprocal translocation, 46,XY,t(2;17) (q35;q23-24), is presented. This is the second case of campomelic dysplasia in which a rearrangement involving the long arm of chromosome 17 has been identified, indicating that this is likely to be the site of the campomelic dysplasia locus.

    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.