You are here

Article Text

Article menu
Download PDFPDF
Research Article
Pallister-Killian syndrome: additional manifestations of cleft palate and sacral appendage.
  1. D R McLeod,
  2. L R Wesselman,
  3. D I Hoar
  1. Department of Paediatrics, Faculty of Medicine, University of Calgary, Alberta Children's Hospital, Canada.

    Abstract

    We report a case of Pallister-Killian syndrome in a 28 week gestation infant. In addition to the characteristic phenotype, this patient had a cleft palate, diaphragmatic hernia, sacral appendage, and imperforate anus. The lymphocyte karyotype showed 96% 46,XX/4% 47,XX+i (12p) and the fibroblast karyotype 47,XX,+marker (presumed i(12p]. Fibroblast cytogenetic studies should be considered in all cases of diaphragmatic hernia associated with other malformations.

    https://doi.org/10.1136/jmg.28.8.541

    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.