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The Chromosome 22q11.2 Deletion Syndrome - 1st Edition - ISBN: 9780128160473

The Chromosome 22q11.2 Deletion Syndrome

1st Edition

A Multidisciplinary Approach to Diagnosis and Treatment

Editor: Donna McDonald-McGinn
Paperback ISBN: 9780128160473
Imprint: Academic Press
Published Date: 1st November 2021
Page Count: 424
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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 diagnose and treat rare genetic diseases.

Key Features

  • Provides a comprehensive description of 22q11.2 deletion 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


Pediatric and adult healthcare providers who deliver treatment for individuals with 22q11.2DS, educators, undergraduate and graduate students, and therapists of all types: occupational therapists, physical therapists, speech pathologists, behavioral therapists, genetic counselors, psychologists and social workers, psychiatrists, pediatricians, gastroenterologists, dentists, hematologists, cardiologists, immunologists, ophthalmologists, plastic surgeons, ENTs, endocrinologists, urologists, orthopedists, neurologists

Table of Contents

  1. Background
    2. Genetics, Mechanism, and Pathophysiology
    3. Embryonic Development in Relation to 22q11.2DS
    4. Cardiology
    5. Immunology
    6. Palate
    7. Indications and Outcomes of Otolaryngologic Surgery in Children with 22Q11.2
    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. General Pediatrics
    20. Transition to Adulthood
    21. Prenatal Screening, Diagnosis, and Issues Surrounding Reproduction
    22. Quality of Life
    23. Future Directions
    24. General Principles
    25. What are the Medical Needs of Patients with 22q11.2DS?


No. of pages:
© Academic Press 2021
1st November 2021
Academic Press
Paperback ISBN:

About the Editor

Donna McDonald-McGinn

Professor Donna McDonald-McGinn MS, LCGC 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.

Affiliations and Expertise

Clinical Professor of Pediatrics, Perelman School of Medicine of the University of Pennsylvania; Director, 22q and You Center; Chief, Section of Genetic Counseling; Associate Director, Clinical Genetics Center, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA

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