Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): report of 11 cases.

@article{Reynolds1987Isochromosome1M,
  title={Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): report of 11 cases.},
  author={James F Reynolds and Art Daniel and Thaddeus E. Kelly and Susanne M Gollin and Mark J Stephan and Janet M Carey and W N Adkins and M. H. J. Webb and F Char and Jorge F Jimenez},
  journal={American journal of medical genetics},
  year={1987},
  volume={27 2},
  pages={257-74}
}
We report on 11 cases of isochromosome 12p mosaicism (or Pallister mosaic aneuploidy syndrome) in which the isochromosome is usually absent in cultured lymphocytes but present in fibroblasts. The patients range in age from a 22-week-gestation fetus to a 45-year-old man. They have a distinct pattern of anomalies which enables one to make a diagnosis based on clinical manifestations alone. Craniofacial manifestations include "coarse" face with prominent forehead, sparsity of scalp hair… CONTINUE READING
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