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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866
EISSN: 0971-6866
Vol. 15, No. 2, 2009, pp. 75-77
Bioline Code: hg09018
Full paper language: English
Document type: Case Report
Document available free of charge

Indian Journal of Human Genetics, Vol. 15, No. 2, 2009, pp. 75-77

 en Rare association of turner syndrome with neurofibromatosis type 1 and tuberous sclerosis complex
Suttur, Malini S; Mysore, Savitha R; Krishnamurthy, Balasundaram & Nallur, Ramachandra B


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.

India, Neurofibromatosis type I, rare condition, Turner Syndrome, Tuberous Sclerosis

© Copyright 2009 Indian Journal of Human Genetics.
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