doi: 10.1002/ajmg.1320410321.
Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridization
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- PMID: 1789295
- DOI: 10.1002/ajmg.1320410321
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Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridization
Am J Med Genet.
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Abstract
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 passages in fibroblast cultures of two patients was monitored.
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