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Table of Content Volume 10 Issue 2 - May 2019

 

 

The cytogenetic and molecular study of Fragile X syndrome: A leading cause of Autism

 

Vilas J Khandare*, Usha Dave**, Muralidhar Mahajan***

 

*Associate Professor, Department of Anatomy, GMERS Medical College, Valsad, Gujarat, INDIA

** Director, ***Clinical Geneticist and Paediatrician, MILS Goregaon, Mumbai, Maharashtra, INDIA

Email: vilasjkhandare@yahoo.com

 

REFERENCES

    1. Bailey, A., Le Couteur, A., Gottesman, I., Bolton, P., Simonoff, E., Yuzda, E., Rutter, M. Autism as a strongly genetic disorder: evidence from a British twin study. Psychol. Med. 25: 63-77, 1995. [PubMed: 7792363]
    2. Folstein, S. E., Rosen-Sheidley, B. Genetics of autism: complex aetiology for a heterogeneous disorder. Nature Rev. Genet. 2: 943-955, 2001.
    3. Schellenberg, G. D., Dawson et al. Evidence for multiple loci from a genome scan of autism kindreds.
    4. Cohen, D., Pichard, N.Specific genetic disorders and autism: clinical contribution towards their identification.
    5. Martin JP, Bell J. A pedigree of mental defect showing sex-linkage. J Neurol Psychiatry. 1943; 6(3–4):154–157.
    6. Hagerman R. J. et al. Advances in the treatment of fragile x Syndrome. Paediatrics 2009; 123: 378-390.
    7. Hall SS, Dougherty RF, Reiss AL. Profiles of aberrant white matter microstructure in fragile X syndrome. Neuroimage Clin. 2016. 11:133-8.
    8. Lachiewicz AM, Dawson DV, Spiridigliozzi GA. Physical characteristics of young boys with fragile X syndrome: reasons for difficulties in making a diagnosis in young males. Am J Med Genet. 2000 Jun 5. 92(4):229-36.
    9. Hagerman R, Au J, Hagerman P. FMR1 premutation and full mutation molecular mechanisms related to autism. J Neurodev Disord. 2011; 3(3):211–224.
    10. Oostra BA, Willemsen R. FMR1: a gene with three faces. Biochim Biophys Acta. 2009 Feb 19.
    11. Smits AP, Dreesen JC, Post JG, Smeets DF, de Die-Smulders C, Spaans-van der Bijl T, et al. The fragile X syndrome: no evidence for any recent mutations. J Med Genet. 1993 Feb. 30(2):94-6.
    12. Hagerman R J.Physical and behavioral phenol type. In: HagermanR.J, andCronister A. Fragile X syndrome: diagnosis, treatment, and research. Baltimore: Johns Hopkins University Press, 1996:3-88.