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

ISBN-13: 9780128160473 / Angielski / Miękka / 2022 / 424 str.

Donna M. McDonald-McGinn

Spis treści

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