You are here

Article Text

Article menu
Download PDFPDF
Short report
Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2)
  1. Rick A Martina,
  2. Darrin W Sabol*,b,
  3. Peter K Roganc
  1. aDepartment of Pediatrics, MCP Hahnemann School of Medicine, St Christopher’s Hospital for Children, Philadelphia, PA, USA, bDepartment of Human Genetics, Allegheny General Hospital, Pittsburgh, PA, USA, cSection of Medical Genetics and Molecular Medicine, Children’s Mercy Hospital, University of Missouri School of Medicine, 2401 Gillham Road, Kansas City, MO 64108, USA
  1. Dr Rogan.

Abstract

Maternal uniparental disomy for the complete long arm of chromosome 14 has been reported in 14 patients to date and is associated with a specific pattern of malformation. We report a child with clinical features of this syndrome who exhibits maternal uniparental disomy confined to a specific interstitial segment of chromosome 14.

  • maternal uniparental disomy
  • chromosome 14
  • imprinting

https://doi.org/10.1136/jmg.36.8.633

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.

    View Full Text

    Footnotes

    • ↵* Present address: Phylogenetix Laboratories Inc, 275 William Pitt Way, Pittsburgh, PA 15238, USA.