The Chromosome 22q11.2 Deletion Syndrome

A Multidisciplinary Approach to Diagnosis and Treatment

Specificaties
Paperback, blz. | Engels
Elsevier Science | e druk, 2022
ISBN13: 9780128160473
Rubricering
Elsevier Science e druk, 2022 9780128160473
€ 159,40
Levertijd ongeveer 8 werkdagen

Samenvatting

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.

Specificaties

ISBN13:9780128160473
Taal:Engels
Bindwijze:Paperback

Inhoudsopgave

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