Ring chromosome 22 and neurofibromatosis.

@article{Tommerup1992RingC2,
  title={Ring chromosome 22 and neurofibromatosis.},
  author={Niels Tommerup and Mette Warburg and Volkmar Gieselmann and Britt R. Hansen and J\orn Koch and G. B. Petersen},
  journal={Clinical genetics},
  year={1992},
  volume={42 4},
  pages={171-7}
}
Variable constitutional mosaicism, mos45,XY,-22/46,XY,-22,+mar/46,XY,-22,+r(22)/47,XY,-22,+r(22)+mar/ 47, XY,-22,+r(22)*2, was found in PHA-stimulated peripheral blood, in a lymphoblastoid cell line and in cultured skin fibroblasts from a mentally retarded patient with neurofibromatosis. Both the ring chromosome and the small extra marker chromosome stained… CONTINUE READING