Molecular testing for the trinucleotide repeats in fragile X syndrome

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Molecular testing for the trinucleotide repeats in fragile X syndrome Molecular testing for the trinucleotide repeats in fragile X syndrome. Shown are 3 chromatograms depicting repeat number. (a) Normal female. Note the two peaks, one for each X chromosome. (b) Normal male. One peak, one X chromosome. (c) Male with full expansion. This individual has over 200 CGG repeats noted by the large displaced peak. (Chromatograms courtesy of Dr. Jennifer Wei, Ambry Genetics.) Source: Atypical Modes of Inheritance, Medical Genetics: An Integrated Approach Citation: Schaefer G, Thompson, Jr. JN. Medical Genetics: An Integrated Approach; 2017 Available at: https://accessmedicine.mhmedical.com/DownloadImage.aspx?image=/data/books/2247/schaefer_ch12_f020c-1.png&sec=173745132&BookID=2247&ChapterSecID=173745036&imagename= Accessed: December 26, 2017 Copyright © 2017 McGraw-Hill Education. All rights reserved

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