Fragile X Syndrome

Description of The syndrome

• Long faces, delayed puberty, large ears, long narrow faces
• The problems that come with syndrome are both mental and physical
• This disorder is not fatal
• Picture from https://www.ourfragilexworld.org

WHO IS AFFECTED

• Male and Female
• Adults and Children
• Effects 1 in every 3,600 boys
• Effects 1 in every 6,000 girls
• More common in males

Inheritance

• It is inherited through a family carrier with syndrome.
• Inheratied on the X Chromosome on one of both sex Chromosomes
• X -dominant inheritance

TREATMENTS

• Southern Blotting
• PCR
• Therapy does not help with syndrome
• no cure...yet

ADDITIONAL INFORMATION

• This syndrome is a form of mental retardation
• Can have drastic affects on the persons life.

References

• 1. Filipovic-Sadic, S., Sah, S., Chen, L., Krosting, J., Sekinger, E., Zhang, W., . . . Tassone, F. (2010). A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome. Clinical Chemistry, 56(3), 399-408. Retrieved from http://search.proquest.com/docview/ 213990204?accountid=43412.
• 2. Heulens, I., Suttie, M., Postnov, A., De Clerck, N., Perrotta, C. S., Mattina, T., . . . Hammond, P. (2013). Craniofacial characteristics of fragile X syndrome in mouse and man. European Journal of Human Genetics : EJHG, 21(8), 816-23. doi:http://dx.doi.org/10.1038/ejhg.2012.265
• 3. Arrieta, I., et al. "Fragile X gene stability in Basque Valleys: prevalence of premutation and intermediate alleles." Human Biology 80.6 (2008): 593+. Student Resources in Context. Web. 16 Jan. 2014.
• "Sex chromosome abnormalities." World of Health. Gale, 2007. Student Resources in Context. Web. 9 Feb. 2014. Document URL http://ic.galegroup.com/ic/suic/ReferenceDetailsPage/ReferenceDetailsWindow... of TAT-Mediated Protein Therapy for Fragile X Syndrome
• Reis, Surya A; Willemsen, Rob; van Unen, Leontine; Hoogeveen, Andre T; Oostra, Ben A. Journal of Molecular Histology35.4 (May 2004): 389-95. formats