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

作者信息

Speleman F, Leroy J G, Van Roy N, De Paepe A, Suijkerbuijk R, Brunner H, Looijenga L, Verschraegen-Spae M R, Orye E

机构信息

Department of Medical Genetics, University Hospital, Ghent, Belgium.

出版信息

Am J Med Genet. 1991 Dec 1;41(3):381-7. doi: 10.1002/ajmg.1320410321.

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.