Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.
Aia Elise JønchElise DouardClara MoreauAnke Van DijckMarzia PasseggeriR Frank KooyJacques PuechbertyCarolyn CampbellDamien SanlavilleHenrietta LefroySonia RichetinAurelie PainDavid GenevièveUsha KiniCédric Le CaignecJames LespinasseAnne-Bine SkytteBertrand IsidorChristiane ZweierJean-Hubert CabergMarie-Ange DelrueRikke Steensbjerre MøllerAnders BojesenHelle HjalgrimCharlotte Brasch-AndersenEmmanuelle LemyreLilian Bomme OusagerSebastien Jacquemontnull nullPublished in: Journal of medical genetics (2019)
We recommend that the deletion should be classified as 'pathogenic of mild effect size'. Since it explains only a small proportion of the phenotypic variance in carriers, it is not worth discussing in the developmental clinic or in a prenatal setting.