A Male with Cooccurrence of Down Syndrome and Fragile X Syndrome
Joint Authors
Visootsak, Jeannie
Buterbaugh, Allison
Love, Kaitlin
Anderson, Tovi
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-09-12
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Anderson, Tovi& Buterbaugh, Allison& Love, Kaitlin& Visootsak, Jeannie. 2013. A Male with Cooccurrence of Down Syndrome and Fragile X Syndrome. Case Reports in Genetics،Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-476900
Modern Language Association (MLA)
Anderson, Tovi…[et al.]. A Male with Cooccurrence of Down Syndrome and Fragile X Syndrome. Case Reports in Genetics No. 2013 (2013), pp.1-4.
https://search.emarefa.net/detail/BIM-476900
American Medical Association (AMA)
Anderson, Tovi& Buterbaugh, Allison& Love, Kaitlin& Visootsak, Jeannie. A Male with Cooccurrence of Down Syndrome and Fragile X Syndrome. Case Reports in Genetics. 2013. Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-476900
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-476900