The Chromosome 22q11.2 Deletion Syndrome

A Multidisciplinary Approach to Diagnosis and Treatment

Donna M. McDonald-McGinn

• Publisher: Academic Press
• Year: 2022
• Print ISBN: 9780128160473
• eBook ISBN: 9780128160480
• Topic: Medicine
• Subtopic: Genetics in Medicine

The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment serves as the first comprehensive, user-friendly resource on the etiology, prognosis, and recurrence risk associated with the chromosome 22q11.2 deletion 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 every applicable subspecialty, such as, cardiology, immunology, endocrinology, gastroenterology, hematology, ophthalmology, neurology, and psychiatry, among other fields. This book presents an authoritative resource with full color images that enhance concept illustration and aid in real-time decision-making. As 22q11.2 deletion syndrome has become a model for understanding rare and frequent anomalies, numerous medical issues, cognitive and behavioral phenotypes, and later onset conditions, this text will become the go to resource for clinicians, researchers, trainees, and motivated family members, in gaining a full understanding of this complex chromosomal disorder. - Provides a complete description of 22q11.2 deletion syndrome for healthcare professionals, researchers, trainees, and families affected by this common condition - Presents diagnostic and treatment strategies to help tackle this complex and often undiagnosed and therefore undertreated condition - Covered in a user-friendly, practical format that emphasizes evidence-based evaluation and treatment derived from the latest clinical experience and research in the field - Features leading international contributors in numerous sub-specialties, representing the multisystem nature of this condition - Includes full color figures, flow charts, tables, and patient images to guide real-time decision-making

Table of contents

• Title of Book
• Cover image
• Title page
• Table of Contents
• Copyright
• Dedication
• Contributors
• About the Editor
• Foreword
• Preface
• Acknowledgments
• Chapter 1 22q11.2 deletion syndrome: Setting the stage
• Chapter 2 Genetics, mechanism, and pathophysiology of 22q11.2 deletion syndrome
• Chapter 3 Embryonic development in 22q11.2 deletion syndrome
• Chapter 4 Congenital heart disease and cardiovascular abnormalities associated with 22q11.2 deletion syndrome
• Chapter 5 The immune system in 22q11.2 deletion syndrome
• Chapter 6 Craniofacial abnormalities in association with 22q11.2 deletion syndrome
• Chapter 7 Otolaryngologic issues in association with 22q11.2 deletion syndrome
• Chapter 8 Endocrine features of 22q11.2 deletion syndrome
• Chapter 9 Gastroenterological manifestations associated with 22q11.2 deletion syndrome
• Chapter 10 Genitourinary abnormalities in association with 22q11.2 deletion syndrome
• Chapter 11 Hematologic and oncological manifestations of 22q11.2 deletion syndrome
• Chapter 12 Skeletal anomalies associated with 22q11.2 deletion syndrome
• Chapter 13 Ocular findings in 22q11.2 deletion syndrome
• Chapter 14 Neurological features associated with 22q11.2 deletion syndrome
• Chapter 15 Neurodevelopmental outcome, developmental trajectories, and management in 22q11.2 deletion syndrome
• Chapter 16 Speech and language manifestations in 22q11.2 deletion syndrome
• Chapter 17 Psychiatric profile in children and youth with 22q11.2 deletion syndrome
• Chapter 18 Mental health in adults with 22q11.2 deletion syndrome
• Chapter 19 Primary pediatric care for children and youth with 22q11.2 deletion syndrome
• Chapter 20 Healthcare transitions for adolescents and adults with 22q11.2 deletion syndrome
• Chapter 21 Reproduction, prenatal screening, and diagnosis in 22q11.2 deletion syndrome
• Chapter 22 Quality of life: Educational, vocational, and life planning for individuals with 22q11.2 deletion syndrome
• Chapter 23 22q11.2 deletion syndrome: Future directions
• Chapter 24 General management principles for 22q11.2 deletion syndrome
• Chapter 25 Medical needs associated with 22q11.2 deletion syndrome
• Glossary
• Index