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Elsevier

The Chromosome 22q11.2 Deletion Syndrome

A Multidisciplinary Approach to Diagnosis and Treatment

  • 1st Edition - August 19, 2022
  • Latest edition
  • Editor: Donna M. McDonald-McGinn
  • Language: English

The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment serves as the first comprehensive, user-friendly resource on the etiology,… Read more

Description

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.

Key features

  • 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

Readership

Pediatric and adult healthcare providers who deliver treatment for individuals affected by chromosome 22q11.2 deletion syndrome including primary care providers, geneticists and genetic counselors, cardiologists, dentists, developmental pediatricians, endocrinologists, ENTs, gastroenterologists, general surgeons, hematologists, immunologists, neurologists, ophthalmologists, orthopedists, plastic surgeons, psychiatrists, urologists, educators, undergraduate and graduate students, psychologists and social workers, and therapists of all types including occupational, physical, speech, and behavioral therapists, as well as interested family members.

Table of contents

1. 22q11.2 deletion syndrome: Setting the stage

2. Genetics, mechanism, and pathophysiology of 22q11.2 deletion syndrome

3. Embryonic development in 22q11.2 deletion syndrome

4. Congenital heart disease and cardiovascular abnormalities associated with 22q11.2 deletion syndrome

5. The immune system in 22q11.2 deletion syndrome

6. Craniofacial abnormalities in association with 22q11.2 deletion syndrome

7. Otolaryngologic issues in association with 22q11.2 deletion syndrome

8. Endocrine features of 22q11.2 deletion syndrome

9. Gastroenterological manifestations associated with 22q11.2 deletion syndrome

10. Genitourinary abnormalities in association with 22q11.2 deletion syndrome

11. Hematologic and oncological manifestations of 22q11.2 deletion syndrome

12. Skeletal anomalies associated with 22q11.2 deletion syndrome

13. Ocular findings in 22q11.2 deletion syndrome

14. Neurological features associated with 22q11.2 deletion syndrome

15. Neurodevelopmental outcome, developmental trajectories, and management in 22q11.2 deletion syndrome

16. Speech and language manifestations in 22q11.2 deletion syndrome

17. Psychiatric profile in children and youth with 22q11.2 deletion syndrome

18. Mental health in adults with 22q11.2 deletion syndrome

19. Primary pediatric care for children and youth with 22q11.2 deletion syndrome

20. Healthcare transitions for adolescents and adults with 22q11.2 deletion syndrome

21. Reproduction, prenatal screening, and diagnosis in 22q11.2 deletion syndrome

22. Quality of life: Educational, vocational, and life planning for individuals with 22q11.2 deletion syndrome

23. 22q11.2 deletion syndrome: Future directions

24. General management principles for 22q11.2 deletion syndrome

25. Medical needs associated with 22q11.2 deletion syndrome

Product details

  • Edition: 1
  • Latest edition
  • Published: August 19, 2022
  • Language: English

About the editor

DM

Donna M. 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
Professor of Clinical 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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