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http://20.193.157.4:9595/xmlui/handle/123456789/1140| Title: | FRAGILE X SYNDROME: CLINICAL & CYTOLOGICAL STUDY IN NORTH KARNATAKA |
| Authors: | DR R.S.BULAGOUDADR G.S.KADAKOL, DR M M PATIL, DR S.V.PATIL, DR BHEEMSHETTY S. PATIL |
| Keywords: | Fragile X Syndrome (FXS), Mental retardation, Cytogenetic Analysis, Clinical case Fragile X Syndrome. |
| Issue Date: | Apr-2017 |
| Publisher: | BLDE(Deemed to be University) |
| 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. |
| URI: | http://hdl.handle.net/123456789/1140 |
| Appears in Collections: | Faculty of Anatomy |
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