Mosaic tetrasomy 12p: four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the original Pallister-Mosaic syndrome cases.

@article{Warburton1987MosaicT1,
  title={Mosaic tetrasomy 12p: four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the original Pallister-Mosaic syndrome cases.},
  author={Dorothy Warburton and Kwame Anyane-Yeboa and Uta Francke},
  journal={American journal of medical genetics},
  year={1987},
  volume={27 2},
  pages={275-83}
}
Four new cases are reported in which mosaicism for a supernumerary chromosome interpreted as an isochromosome for 12p [i(12p)] is present. In 2 cases seen in early childhood the mosaicism was present at a low level in peripheral blood and was documented in one case to be present with a higher frequency in fibroblast cultures from skin. These cases have clinical features compatible with those in previously reported cases of the Teschler-Nicola/Killian syndrome, many of whom have now been found… CONTINUE READING
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