Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome - 28/07/11
Doi : 10.1016/j.jpeds.2011.02.039
Anne S. Bassett, MD a, b, c, 
, Donna M. McDonald-McGinn, MS, CGC d, ⁎ 
, Koen Devriendt, MD i, Maria Cristina Digilio, MD h, Paula Goldenberg, MD, MSW f, Alex Habel, MD g, Bruno Marino, MD j, Solveig Oskarsdottir, MD, PhD k, Nicole Philip, MD l, Kathleen Sullivan, MD, PhD e, Ann Swillen, PhD i, Jacob Vorstman, MD, PhD m
, Donna M. McDonald-McGinn, MS, CGC d, ⁎ , Koen Devriendt, MD i, Maria Cristina Digilio, MD h, Paula Goldenberg, MD, MSW f, Alex Habel, MD g, Bruno Marino, MD j, Solveig Oskarsdottir, MD, PhD k, Nicole Philip, MD l, Kathleen Sullivan, MD, PhD e, Ann Swillen, PhD i, Jacob Vorstman, MD, PhD mThe International 22q11.2 Deletion Syndrome Consortium
a Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
b Toronto Congenital Cardiac Centre for Adults, Peter Munk Cardiac Centre, University Health Network/Toronto General Hospital, Toronto, Ontario, Canada
c Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada
d Division of Human Genetics, The Children’s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA
e Division of Allergy and Immunology, The Children’s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA
f Cincinnati Children’s Hospital and Medical Center, Cincinnati, OH
g Great Ormond Street Hospital for Sick Children, London, UK
h Department of Medical Genetics, Bambino Gesù Hospital,Rome, Italy
i University of Leuven, Leuven, Belgium
j University La Sapienza, Rome, Italy
k Queen Silvia Children’s Hospital, Goteborg, Sweden
l Hospital de la Timone, Marseille, France
m University Medical Centre Utrecht, Netherlands
Reprint requests: Donna M. McDonald-McGinn, MS, CGC, The Children’s Hospital of Philadelphia, 34th and Civic Center Boulevard, Philadelphia, PA19104.Mots-clés : 22q11DS, aCGH, FISH, LCR, MLPA
Plan
| The authors declare no conflicts of interest. |
© 2011
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Vol 159 - N° 2
P. 332 - août 2011 Retour au numéro
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