| Rare association of Turner syndrome with neurofibromatosis type 1 and tuberous sclerosis complex. | |
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MedLine Citation:
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PMID: 20680156 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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We report a rare association of Turner syndrome with both Neurofibromatosis type I and Tuberous Sclerosis. The patient had XOkaryotype with Turners stigmata and also had features of Neurofibromatosis 1 in the form of significant café-au-lait spots and Plexiform neurofibroma along with typical features of Tuberous Sclerosis complex. Pedigree analysis revealed that the elder brother of the proband in the family also suffered from Tuberous Sclerosis without the manifestation of Neurofibromatosis or any other genetic disorders. We hypothesize that these associations could be due to new independent mutations and also increased maternal and paternal age in a pre-disposition of Turner syndrome. |
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Authors:
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Malini S Suttur; Savitha R Mysore; Balasundaram Krishnamurthy; Ramachandra B Nallur |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Indian journal of human genetics Volume: 15 ISSN: 0971-6866 ISO Abbreviation: Indian J Hum Genet Publication Date: 2009 May |
Date Detail:
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Created Date: 2010-08-03 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101223637 Medline TA: Indian J Hum Genet Country: India |
Other Details:
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Languages: eng Pagination: 75-7 Citation Subset: - |
Affiliation:
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Department of Studies in Zoology, Human Genetics Laboratory, University of Mysore, Manasagangothri, Mysore - 570 006, India. |
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