Genetics of Developmental Disabilities

Merlin G. Butler, M.D., Ph.D., FFACMG is Professor of Psychiatry and Pediatrics Director, Division of Research ABMG Certified Clinical Geneticist and Clinical Cytogeneticist, Department of Psychiatry and Behavioral Sciences, University of Kansas. F. John Meaney is Lecturer in genetics and developmental pediatrics at the University of Arizona Department of Pediatrics.

Overview of Medical Genetics









1. A History of Medical Genetics


Giovanni Neri and Francesco D. Tiziano









2. Patterns of Inheritance: Mendelian and Non-Mendelian


Merlin G. Butler et al.









3. Clinical Cytogenetics and Testing for Developmental Disabilities


Joan H. M. Knoll and Linda D. Cooley









4. Molecular Genetics and Diagnostic Testing


Nancy J. Carpenter









5. The Human Genome Project and Its Impact on Understanding Developmental Disabilities


Daniel J. Wattendorf and Maximilian Muenke









6. Animal Models of Down Syndrome and Other Genetic Diseases Associated with Mental Retardation


Angela J. Villar and Charles J. Epstein


Classical Examples of Conditions with Developmental Disabilities









7. Medical Care of the Child with Down Syndrome


William I. Cohen









8. Fragile X and X-linked Mental Retardation


Sebastien Jacquemont, Vincent des Portes, and Randi Hagerman









9.Prader-Willie Syndrome: An Example of Genomic Imprinting


Merlin G. Butler









10. Angelman Syndrome


Charles A. Williams









11. Williams-Beuren Syndrome


Hui Zhang









12. Velo-Cardio-Facial Syndrome


Wendy R. Kates et al.









13. Smith-Magenis Syndrome-A Developmental Disorder with Circadian Dysfunction


Ann C. M. Smith









14. Rett Syndrome


Thierry Bienvenu









15. Microdeletion Syndromes


Gopalrao V. N. Velagaleti









16. Sex Chromosome Anomalies


John L. Hamerton and Jane A. Evans









17. Expanded Newborn Screening and Phenylketonuria (PKU)


Richard Hillman









18. Fetal Alcohol Syndrome


Margaret P. Adam and H. Eugene Hoyme


Related Topics









19. Prevalence and Genetic Epidemiology of Developmental Disabilities


Coleen A. Boyle, Kim Van Naarden Braun, and Marshalyn Yeargin-Allsop









20. Neuropsychiatric Aspects of Genetic Disorders


Barbara Y. Whitman









21. Behavioral Genetics and Developmental Disabiliites


Stephen A. Petrill









22. Attention Deficit-Hyperactivity Disorder


Mark L. Walraich and Melissa A. Doffing









23. Cerebral Palsy


Burris Duncan









24. Diagnostic Evaluation and Treatment of Developmental Disabiliites


Kathy Ellerbeck, Chet Johnson, and Edward Hoffman









25. Complementary and Alternative Medicine for Children with Disabilities









Melinda F. Davis