Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridization.

@article{Speleman1991PallisterKillianSC,
  title={Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridization.},
  author={Frank Speleman and Jules Gerard Leroy and Nadine Van Roy and Anne De Paepe and Ron F. Suijkerbuijk and Han G. Brunner and Leendert H. J. Looijenga and Marie-Rose Verschraegen-Spae and E. Orye},
  journal={American journal of medical genetics},
  year={1991},
  volume={41 3},
  pages={381-7}
}
The isochromosome 12p (i(12p)) in fibroblasts of 3 patients with Pallister-Killian syndrome and one decreased prematurely born neonate, was characterized by fluorescent in situ hybridization (FISH) using chromosome 12-specific DNA probes. FISH is a useful technique for rapid and reliable detection and characterization of the i(12p) chromosome in Pallister-Killian patients. Detection was possible also in interphase cells. In addition, the in vitro selection against i(12p) cells at different… CONTINUE READING

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