Illustration of two individuals, one affected with Angelman and the other with Prader–Willi syndrome. The maternal and paternal regions of 15q11.2-13 illustrate.

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Copyright © 2004 The McGraw-Hill Companies, Inc. All rights reserved.

Copyright © 2004 The McGraw-Hill Companies, Inc. All rights reserved.

Figure 2 Chromosomal region 15q11.2–q13

Copyright © 2004 The McGraw-Hill Companies, Inc. All rights reserved.

Copyright © 2004 The McGraw-Hill Companies, Inc. All rights reserved.

Copyright © 2004 The McGraw-Hill Companies, Inc. All rights reserved.

Copyright © 2004 The McGraw-Hill Companies, Inc. All rights reserved.

Copyright © 2004 The McGraw-Hill Companies, Inc. All rights reserved.

Copyright © 2004 The McGraw-Hill Companies, Inc. All rights reserved.

Presentation transcript:

Illustration of two individuals, one affected with Angelman and the other with Prader–Willi syndrome. The maternal and paternal regions of 15q11.2-13 illustrate how restriction enzymes can generate different size fragments that can be used to distinguish microdeletions or other abnormalities in the paternal or the maternal chromosome. For Angelman syndrome, absence of the maternal 15q11.2-13 region (or imprinting problems that interfere with appropriate methylation of this region) will result in smaller fragment sizes due to the action of the Not-1 enzyme on the paternal region. The reverse is the case with Prader–Willi syndrome. This and related methodologies are important initial screening tests for these conditions. Source: Chapter 21. Genetic Testing For Neurological Disorders, Pediatric Practice: Neurology Citation: Carney PR, Geyer JD. Pediatric Practice: Neurology; 2010 Available at: http://neurology.mhmedical.com/DownloadImage.aspx?image=/data/books/carn/carn_c021f008.gif&sec=41031818&BookID=459&ChapterSecID=41027649&imagename= Accessed: December 19, 2017 Copyright © 2017 McGraw-Hill Education. All rights reserved