Rare association of Turner syndrome with neurofibromatosis type 1 and tuberous sclerosis complex.
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Date
2009-05
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Abstract
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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Keywords
India, Neurofibromatosis type I, rare condition, Turner Syndrome, Tuberous Sclerosis
Citation
Suttur Malini S, Mysore Savitha R, Krishnamurthy Balasundaram, Nallur Ramachandra B. Rare association of Turner syndrome with neurofibromatosis type 1 and tuberous sclerosis complex. Indian Journal of Human Genetics. 2009 May; 15(2): 75-77.