Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development.
All,
This study found that having a deletion or duplication of the 16p11.2 region causes opposite but mirror-image effects on facial features in both people and animal models, and that these facial differences are caused by the combined influence of multiple genes working together—which may help families understand why their child looks the way they do and could aid doctors in recognizing 16p11.2 syndromes by facial appearance.