eP496 - Follow-up of an abnormal NIPS result (T13) leads to identification of mosaic 13q31.1q34 tetrasomy associated with a neocentromeric sSMC

Autor: Dharmadhikari, Avinash, Pereira, Elaine, Harkavy, Nina, Andrews, Carli C., Jobanputra, Vaidehi, Wapner, Ronald, Levy, Brynn, Ganapathi, Mythily, Liao, Jun
Zdroj: In Molecular Genetics and Metabolism April 2021 132 Supplement 1:S318-S319
Databáze: ScienceDirect