Article
A fluorescent method for detecting low-grade 11patUPD mosaicism in Beckwith-Wiedemann syndrome.
Molecular and cellular probes - 1 Dec 2003
Russo Silvia, Mencarelli Monica, Cavalleri Florinda, Selicorni Angelo, Cogliati Francesca, Larizza Lidia
Abstract excerpt
The quantitative evaluation of mosaicism for uniparental disomy (UPD) involving a restricted chromosomal region requires the availability of a sensitive and reproducible method that is capable of detecting even a small percentage of disomic cells and avoiding false positive and false negative results. The occurrence of UPD is usually monitored by means of the parent-proband segregation analysis of microsatellites...
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