| Genetic analysis of fragile X-syndrome. | |
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MedLine Citation:
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PMID: 11216325 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Fragile X-syndrome is the most common inherited cause of mental retardation. The key clinical features of the fragile X-syndrome in males are mental retardation, a long face with large everted ears and large testes. The disorder is associated with a visible fragile site at Xq27.3 at FMR-1 loucs with the amplification of (CGC) n repeat sequence. The early diagnosis of affected individuals are carriers who are not aware of their high risk of having an affected child is important for proper management and counselling. |
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Authors:
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Badaruddoza; G G Shadab; M Afzal; M D Ahmad |
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Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Indian journal of medical sciences Volume: 54 ISSN: 0019-5359 ISO Abbreviation: Indian J Med Sci Publication Date: 2000 May |
Date Detail:
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Created Date: 2001-02-16 Completed Date: 2001-03-08 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 0373023 Medline TA: Indian J Med Sci Country: India |
Other Details:
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Languages: eng Pagination: 174-6 Citation Subset: IM |
Affiliation:
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Section of Genetics, Department of Zoology, Aligarh Muslim University, Aligarh 202 002. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Female Fragile X Syndrome / diagnosis, epidemiology*, genetics* Genetic Counseling Genetic Predisposition to Disease / epidemiology* Genetic Testing* Humans Incidence India / epidemiology Male Prognosis |
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