Tall stature and duplication of the insulin-like growth factor I receptor gene.

@article{Kant2007TallSA,
  title={Tall stature and duplication of the insulin-like growth factor I receptor gene.},
  author={Sarina G. Kant and Marjolein Kriek and Marie J. E. Walenkamp and Kerstin M B Hansson and Adrian van Rhijn and Jill Clayton-Smith and Jan Maarten Wit and Martijn H. Breuning},
  journal={European journal of medical genetics},
  year={2007},
  volume={50 1},
  pages={1-10}
}
Trisomy of 15q26-qter is frequently associated with tall stature and mental retardation. Here we describe a patient with such trisomy, without a partial monosomy of another chromosome. The tall stature in this patient is most probably caused by duplication of the IGF1R gene. A duplication of the IGF1R gene is not a frequent finding in patients with tall stature. In 38 patients with features of Sotos syndrome without NSD1 alterations, a duplication was found only once. This patient was already… CONTINUE READING