You are here

Article Text

Article menu
Download PDFPDF
Research Article
Duplication of distal 17q from a maternal translocation: an additional case with some unique features.
  1. A Caine,
  2. D M Knapton,
  3. R F Mueller,
  4. P J Congdon,
  5. D Haigh
  1. Regional Cytogenetics Unit, St James's University Hospital, Leeds.

    Abstract

    A female with multiple dysmorphic features was found to have an unbalanced karyotype with duplication of the distal long arm of chromosome 17 and deletion of the terminal region of the short arm of chromosome 12. This was derived from a reciprocal translocation in the mother, 46,XX,t(12;17)(p13.3;q23). Clinical findings are presented and comparison with other reported cases of distal 17q duplication shows several unique features in our case.

    https://doi.org/10.1136/jmg.26.9.577

    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.