Suttur, Malini S. ; Mysore, Savitha R. ; Krishnamurthy, Balasundaram ; Nallur, Ramachandra B. (2009) Rare association of turner syndrome with neurofibromatosis type 1 and tuberous sclerosis complex Indian Journal of Human Genetics, 15 (2). pp. 75-77. ISSN 0971-6866
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Official URL: http://www.bioline.org.br/request?hg09018
Related URL: http://dx.doi.org/10.4103/0971-6866.55220
Abstract
We report a rare association of Turner syndrome with both Neurofibromatosis type I and Tuberous Sclerosis. The patient had XO karyotype with Turners stigmata and also had features of Neurofibromatosis 1 in the form of significant cafe-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.
| Item Type: | Article |
|---|---|
| Source: | Copyright of this article belongs to Wolters Kluwer. |
| Keywords: | India, Neurofibromatosis Type I, Rare Condition, Turner Syndrome, Tuberous Sclerosis |
| ID Code: | 111064 |
| Deposited On: | 31 Jan 2018 11:40 |
| Last Modified: | 31 Jan 2018 11:40 |
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