The Chromosome 22q11.2 Deletion Syndrome. A Multidisciplinary Approach to Diagnosis and Treatment

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

Authors

Donna M. McDonald-McGinn 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. 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.