S66428
Parental origin and clinical phenotype of 15q11-q13 duplications discovered as maternal secondary findings with NIPT
Aim of the study: to retrospectively investigate the incidence of maternal 15q11-q13 duplications in the population through the analysis of NIPT data from pregnant women in Belgium. We test the hypothesis that 15q11-q13 duplications of maternal origin cause more pronounced clinical symptoms, while duplications of paternal origin have a milder or even no effect in these women.
Last edit:
9 march 2023