Prenatal UPD testing survey in Robertsonian translocations

Autor: F, Gualandi, A, Sensi, C, Trabanelli, F, Falciano, A, Bonfatti, E, Calzolari
Rok vydání: 2000
Předmět:
Zdroj: Prenatal diagnosis. 20(6)
ISSN: 0197-3851
Popis: A systematic search was made for uniparental disomy (UPD) in familial or de novo balanced Robertsonian translocations, identified by prenatal cytogenetic investigations. Parent-of-origin studies were performed using molecular markers for both chromosomes involved in the translocation. No UPD cases were identified out of 23 analysed cases. The results presented here, combined with other available data, provide preliminary elements for genetic counselling in these common chromosomal rearrangements.
Databáze: OpenAIRE