Abstract
Often in the history of medicine, as the field progresses from descriptive to etiologic diagnosis, great strides can be made in the treatment of disease. The current chapter will discuss the 22q11.2 Deletion Syndrome (22q11DS), and argue that knowledge of the syndrome that has emerged in the past several decades, together with rapid progress in applications of genomic analysis to diagnosis of complex neurobehavioral syndromes, is creating the basis for a new understanding of many developmental disabilities. To provide context, it is useful to begin with a historical example, in part abstracted from Pearce’s fascinating account, which illustrates how progressing from description to causation led ultimately to what was arguably one of the great revolutions in twentieth-century psychopharmacology.
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Cubells, J.F. (2016). 22q11.2 Deletion Syndrome: A Paradigmatic Copy-Number-Variant (CNV) Disorder. In: Rubin, I.L., Merrick, J., Greydanus, D.E., Patel, D.R. (eds) Health Care for People with Intellectual and Developmental Disabilities across the Lifespan. Springer, Cham. https://doi.org/10.1007/978-3-319-18096-0_61
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DOI: https://doi.org/10.1007/978-3-319-18096-0_61
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