You are here

Article Text

Article menu
Download PDFPDF
Research Article
The 9p-syndrome.
  1. S J Funderburk,
  2. R S Sparkes,
  3. I Klisak

    Abstract

    A 13-year-old boy with 9p- (p22 leads to pter) is reported. He had many features in common with previous 9p- cases, as well as several distinctive features including polydactyly and precocious puberty. Cytogenetic studies revealed a de novo deletion distal to ban 9p22, which was the reported site of chromosome break in 9 of the 10 previous 9p- cases. Evaluation of the human GALT enzyme suggests that its locus is not on the deleted segment.

    https://doi.org/10.1136/jmg.16.1.75

    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.