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The Chromosome 22q11.2 Deletion Syndrome

  • ID: 4894749
  • Book
  • June 2020
  • 424 Pages
  • Elsevier Science and Technology
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The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment serves as the first comprehensive, user-friendly resource on the diagnosis, treatment and patient aspects of this syndrome. Leading international contributors cover the background, genetics, testing methods and pathophysiology of 22q11.2DS, placing emphasis on a strong foundation for multidisciplinary treatment strategies. Written by specialists in cardiology, immunology, endocrinology, gastroenterology, hematology, ophthalmology and neurology, among other fields, this book presents an authoritative resource with full color figures, flow charts and tables that enhance concept illustration and aid in real-time decision-making.

As 22q11.2DS has become a model for understanding rare and frequent congenital anomalies, this book will help researchers, clinicians and advanced students gain a full understanding of how to diagnosis and treat rare genetic diseases.

  • Provides a comprehensive description of 22q11.2DS syndrome for healthcare professionals, researchers and students
  • Presents diagnostic and treatment strategies to help tackle this complex and often misdiagnosed and undertreated syndrome
  • Covered in a user-friendly, practical format that emphasizes evidence-based evaluation and treatment derived from the latest research in the field
  • Features leading international contributors in various sub-specialties, representing the many body systems affected by this syndrome
  • Includes full color figures, flow charts and tables to guide real-time decision-making
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1. Background
2. Genetics, Mechanism and Pathophysiology
3. Developmental Biology
4. Cardiology
5. Immunology
6. Palate
7. ENT
8. Endocrine
9. Gastroenterology
10. Genitourinary
11. Hematology
12. Skeletal
13. Ophthalmology
14. Neurology
15.. Developmental Trajectories
16. Speech and Language
17. Child Psychiatry
18. Adult Psychiatry
19. Primary Pediatric Care
20. Transition to Adulthood
21. Reproduction
22. Quality of Life
23. Future Directions
25. General Principles
26. What are the medical needs of patients with 22q11.2DS?
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McDonald-McGinn, Donna M.
Professor Donna McDonald-McGinn is a genetic counselor and Director of the 22q and You Center. She also serves as the Chief of the Section of Genetic Counseling and Associate Director of the Clinical Genetics Center at the Children's Hospital of Philadelphia and Clinical Professor of Pediatrics at the University of Pennsylvania School of Medicine. She has been a staunch advocate for professional and lay education and awareness in the area of the 22q11.2DS since the inception of her Center in 1994. She joined parent activists in establishing the International 22q11.2 Foundation in 2003 and her professional colleagues in forming the International 22q11.2 Modifier Gene Consortium in 2006, the 22q11.2 Society in 2013, and the International 22q11.2 Brain and Behavior Consortium in 2012 where she leads a group of 22 clinical and 5 genomic sites working to identify biomarkers for associated behavioral phenotypes as PI of a $12M NIMH grant. She has partnered with family organizations to improve detection, awareness, care, and quality of life for those individuals and families affected by 22q11.2DS including collaborating to establish diagnosis specific growth charts and pediatric and adult healthcare guidelines; petitioning governments towards initiating newborn screening for 22q11.2 deletion syndrome and organizing events such as 22q at the Zoo - Worldwide Awareness Day.
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