You are here

Article Text

Article menu
Download PDFPDF
Research Article
Duplication of 16q22-->qter confirmed by fluorescence in situ hybridisation and molecular analysis.
  1. R S Houlston,
  2. R M Renshaw,
  3. R S James,
  4. R Ironton,
  5. I K Temple
  1. Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.

    Abstract

    We report a female infant with congenital dislocation of the knee and dysmorphic features including a prominent forehead, midface hypoplasia, and micrognathia. Fluorescence in situ hybridisation and PCR amplification of microsatellite repeats were used to show that she had a de novo unbalanced translocation resulting in partial trisomy for 16q and partial monosomy for 15q (46,XX, -15, tder(15)t(15;16)(q26.1;q22). The consequences of partial aneuploidy of 16q are discussed.

    https://doi.org/10.1136/jmg.31.11.884

    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.