Francesca Malvestiti1, Cristina Agrati1, Barbara Malvestiti1, Francesca Dulcetti1, Rosaria Liuti1, Anna Ruggeri1, Sara Chinetti1, Federico Maggi1, Giuseppe Simoni1, Francesca Romana Grati1
1 TOMA Advanced Biomedical Assays S.p.A., Research and Development, Cytogenetics and Molecular Biology, Busto Arsizio, Varese, Italy
ECA 2015 Congresso, Strasburgo 4-7 luglio
Derivative chromosome (der) from de novo unbalanced translocation (UT) is defined as a chromosome comprising terminal duplication and terminal deletion of a segment of another chromosome (ISCN 2013). Few studies investigated the breakpoint sequences of de novo UTs and the parental origin of the unbalanced segments. Previous studies hypothesized a mechanism of formation different from a parental germline or low-level somatic mosaicism for balanced translocations (Robberecht et al., 2013).
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