Down syndrome (DS) critical region

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Down syndrome (DS) critical region Down syndrome (DS) critical region. Rarely, individuals with Down syndrome will have chromosomal rearrangements that cause trisomy for just a portion of chromosome 21. The APP, SOD1, ETS2, CRYA1, and CBS genes encode proteins (amyloid precursor, superoxide dismutase, the Ets2 transcription factor, crystallin, and cystathionine beta-synthase, respectively) that may play a role in the pathogenesis of Down syndrome. Analysis of two sets of individuals (indicated by the two vertical lines) suggests that the genes responsible for Down syndrome lie in the region of overlap. (Reproduced, with permission, 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://accesspharmacy.mhmedical.com/DownloadImage.aspx?image=/data/books/961/ham007_fig_02-16.png&sec=53627360&BookID=961&ChapterSecID=53555683&imagename= Accessed: December 24, 2017 Copyright © 2017 McGraw-Hill Education. All rights reserved