Rare association of turner syndrome with neurofibromatosis type 1 and tuberous sclerosis complex

Malini, S. S. and Savitha, M. and Balasundaram, K. and Ramachandra, N. 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 1998-362x

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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.

Item Type: Article
Uncontrolled Keywords: India and Neurofibromatosis type I and rare condition and Turner Syndrome and Tuberous Sclerosis
Subjects: B Life Science > Zoology
Divisions: Department of > Zoology
Depositing User: Shrirekha N
Date Deposited: 05 Sep 2019 10:02
Last Modified: 11 Oct 2019 05:53
URI: http://eprints.uni-mysore.ac.in/id/eprint/7635

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