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Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders

Authors

  • Rebekah Jobling Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada Division of Clinical Genetics and Metabolism, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Dimitri James Stavropoulos Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Christian R Marshall Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Cheryl Cytrynbaum Division of Clinical Genetics and Metabolism, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Michelle M Axford Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Vanessa Londero Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Sharon Moalem Regenoron, New York City, New York, USA PubMed articlesGoogle scholar articles
  • Jennifer Orr Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Francis Rossignol CHU Sainte-Justine, Montréal, Quebec, Canada Department of Pediatrics, Université de Montréal, Montréal, Quebec, Canada PubMed articlesGoogle scholar articles
  • Fatima Daniela Lopes CHU Sainte-Justine, Montréal, Quebec, Canada Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal ICVS/3B’s - PT Government Associate Laboratory, Guimarães, Portugal PubMed articlesGoogle scholar articles
  • Julie Gauthier CHU Sainte-Justine, Montréal, Quebec, Canada PubMed articlesGoogle scholar articles
  • Nathalie Alos CHU Sainte-Justine, Montréal, Quebec, Canada Department of Pediatrics, Université de Montréal, Montréal, Quebec, Canada PubMed articlesGoogle scholar articles
  • Rosemarie Rupps Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada PubMed articlesGoogle scholar articles
  • Margaret McKinnon Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada PubMed articlesGoogle scholar articles
  • Shelin Adam Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada PubMed articlesGoogle scholar articles
  • Malgorzata J M Nowaczyk Division of Clinical Pathology, McMaster University, Hamilton, Ontario, Canada PubMed articlesGoogle scholar articles
  • Susan Walker The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Stephen W Scherer The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada Department of Molecular Genetics and McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Christina Nassif CHU Sainte-Justine, Montréal, Quebec, Canada Department of Pediatrics, Université de Montréal, Montréal, Quebec, Canada PubMed articlesGoogle scholar articles
  • Fadi F Hamdan CHU Sainte-Justine, Montréal, Quebec, Canada Department of Pediatrics, Université de Montréal, Montréal, Quebec, Canada PubMed articlesGoogle scholar articles
  • Cheri L Deal CHU Sainte-Justine, Montréal, Quebec, Canada Department of Pediatrics, Université de Montréal, Montréal, Quebec, Canada PubMed articlesGoogle scholar articles
  • Jean-François Soucy CHU Sainte-Justine, Montréal, Quebec, Canada Department of Pediatrics, Université de Montréal, Montréal, Quebec, Canada PubMed articlesGoogle scholar articles
  • Rosanna Weksberg Division of Clinical Genetics and Metabolism, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada PubMed articlesGoogle scholar articles
  • Patrick Macleod The Centre for Biomedical Research, University of Victoria, Victoria, British Columbia, Canada PubMed articlesGoogle scholar articles
  • Jacques L Michaud CHU Sainte-Justine, Montréal, Quebec, Canada Department of Pediatrics, Université de Montréal, Montréal, Quebec, Canada PubMed articlesGoogle scholar articles
  • David Chitayat Division of Clinical Genetics and Metabolism, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, New York City, New York, USA PubMed articlesGoogle scholar articles
  1. Correspondence to Dr David Chitayat, Division of Clinical Genetics and Metabolism, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; David.Chitayat{at}sinaihealthsystem.ca
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Citation

Jobling R, Stavropoulos DJ, Marshall CR, et al
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders
Journal of Medical Genetics 2018;55:316-321.

Publication history

  • Received December 16, 2017
  • Revised March 2, 2018
  • Accepted March 11, 2018
  • First published March 29, 2018.
Online issue publication 
April 27, 2018

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© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.