Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridization. Speleman, F., Leroy, J. G, Roy, N. V., Paepe, A. D., Suijkerbuijk, R, Brunner, H G, Looijenga, L, Verschraegen-Spae, M. R., & Orye, E American journal of medical genetics, 41(3):381--7, December, 1991.
Paper abstract bibtex 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.
@article{ Speleman1991a,
author = {Frank Speleman and Jules G Leroy and Nadine Van Roy and Anne De Paepe and R Suijkerbuijk and H G Brunner and L Looijenga and Marie Rose Verschraegen-Spae and E Orye},
title = {Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridization.},
journal = {American journal of medical genetics},
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.},
issn = {0148-7299},
month = {December},
pages = {381--7},
volume = {41},
number = {3},
url = {http://www.ncbi.nlm.nih.gov/pubmed/1789295} ,
year = {1991}
}
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