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  • Title: Neurofibromatosis type 1 with overlap Turner syndrome and Klinefelter syndrome.
    Author: Hatipoglu N, Kurtoglu S, Kendirci M, Keskin M, Per H.
    Journal: J Trop Pediatr; 2010 Feb; 56(1):69-72. PubMed ID: 19578129.
    Abstract:
    Turner's syndrome is a sex chromosome disorder. Klinefelter's syndrome is one of the most severe genetic diseases. Neurofibromatosis is an autosomal dominant disorder characterized by cafe-au-lait spots and fibromatous tumors of the skin. In this article, we report the overlap of neurofibromatosis-1 with Turner and Klinefelter syndromes. Thus, these disorders might overlap within the same patient. Due to these cases, we suggest that each patient with Turner-like symptoms or Klinefelter's-like syndrome, be carefully examined for café au lait macules before the initiation of hormone replacement treatment.
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