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Case Reports in Genetics
Volume 2013, Article ID 504695, 4 pages
Case Report

A Male with Cooccurrence of Down Syndrome and Fragile X Syndrome

1Emory University, Department of Human Genetics, 2165 N. Decatur Road, Decatur, GA 30033, USA
2Florida State University College of Medicine, Tallahassee, FL 32304, USA

Received 24 May 2013; Accepted 4 August 2013

Academic Editors: S. Ennis and P. Saccucci

Copyright © 2013 Tovi Anderson et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Down syndrome is the most common identifiable genetic cause of intellectual disability, with a unique physical gestalt that makes diagnosis possible during the newborn period. However, the physical characteristics of Fragile X syndrome are fairly subtle, resulting in the first clinical suspicion often arising from delayed developmental milestones. In addition, maladaptive behavior and autistic-like tendencies, such as hand flapping, poor eye contact, and hand biting, may be noted in Fragile X syndrome but are not as commonly observed in Down syndrome. Recognition of a potential secondary diagnosis, such as Fragile X syndrome, in individuals with Down syndrome is critical because there have been advances in targeted pharmacologic treatments for both conditions. Thus, an accurate diagnosis has implications in improving the individual's quality of life.