The Chromosome 22q11.2 Deletion Syndrome

A Multidisciplinary Approach to Diagnosis and Treatment

Donna M. McDonald-McGinn, Donna M. McDonald-McGinn

• Éditeur: Academic Press
• Année: 2022
• ISBN:
  9780128160480
• Sujet: Medicina
• Sous-sujet: Genética en medicina

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