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

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

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Samenvatting

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.

Originele taal-2Engels
Pagina's (van-tot)381-7
Aantal pagina's7
TijdschriftAmerican journal of medical genetics
Volume41
Nummer van het tijdschrift3
DOI's
StatusGepubliceerd - 1 dec. 1991
Extern gepubliceerdJa

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