Fragile X Syndrome: Clinical & Cytological Study in North Karnataka

Authors

  • DR G.S.KADAKOL Genetics Laboratory 1, Shri B M Patil Medical College, Hospital & Research Center, BLDE University, Vijayapur, Karnataka, India 586103
  • DR M M PATIL Department of Pediatrics Shri B M Patil Medical College, Hospital & Research Center, BLDE University, Vijayapur, Karnataka, India 586103
  • DR S.V.PATIL 3.Department of Pediatrics Shri B M Patil Medical College, Hospital & Research Center, BLDE University, Vijayapur, Karnataka, India 586103
  • DR BHEEMSHETTY S. PATIL Department of Anatomy 2, Shri B M Patil Medical College, Hospital & Research Center, BLDE University, Vijayapur, Karnataka, India 586103
  • DR R.S.BULAGOUDA Genetics Laboratory 1, Shri B M Patil Medical College, Hospital & Research Center, BLDE University, Vijayapur, Karnataka, India 586103

Keywords:

Fragile X Syndrome (FXS), Mental retardation, Cytogenetic Analysis, Clinical case Fragile X Syndrome

Abstract

Fragile-X syndrome (FXS) is the most common inherited form of mental disorder. The clinical features of FXS include moderate to severe mental retardation, dysmorphic facial features. One such case was seen & admitted in our hospital with similar clinical symptoms. We examined both clinical and cytological analysis. After examining all these we found child with Fragile X Syndrome. We suggest that molecular analysis of Fragile X Syndrome related to FMR1gene will help to know the novel mutation in this population, which will be helpful for early diagnosis of Fragile-X syndrome and type of genetic disorder.

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Published

30.06.2017

How to Cite

DR G.S.KADAKOL, DR M M PATIL, DR S.V.PATIL, DR BHEEMSHETTY S. PATIL, & DR R.S.BULAGOUDA. (2017). Fragile X Syndrome: Clinical & Cytological Study in North Karnataka. International Journal of Pharma and Bio Sciences, 8(2), 27–30. Retrieved from https://ijpbs.net/index.php/journal/article/view/5809

Issue

Volume 8, Issue 2, 2017

Section

Case Reports

Categories

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