Mechanisms leading to Down syndrome

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Mechanisms leading to Down syndrome Mechanisms leading to Down syndrome. A pedigree in which the mother is phenotypically normal yet is a balanced carrier for a 14;21 robertsonian translocation. She transmits both the translocation chromosome and a normal chromosome 21 to her son, who also inherits a normal chromosome 21 from his father. Three copies of chromosome 21 in the son cause Down syndrome. (Adapted from Thompson MW et al. Genetics in Medicine, 5th ed. Saunders, 1991.) Source: Genetic Disease, Pathophysiology of Disease: An Introduction to Clinical Medicine, 7e Citation: Hammer GD, McPhee SJ. Pathophysiology of Disease: An Introduction to Clinical Medicine, 7e; 2013 Available at: http://accessmedicine.mhmedical.com/DownloadImage.aspx?image=/data/books/961/ham007_fig_02-12.png&sec=53627339&BookID=961&ChapterSecID=53555683&imagename= Accessed: October 26, 2017 Copyright © 2017 McGraw-Hill Education. All rights reserved