ZFIN Image: Qiu et al., 2019, Fig. 1

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Figure Caption

Fig. 1 Differential Effects of 16p11.2 Copy Number on Dimensions of the Frontal, Nasal, Maxillary, and Mandibular Regions

(A) On each 3D facial image, 24 landmarks were placed and two angular measurements were calculated. A description of landmarks is provided in Table S2. After averaging symmetric distances, 156 distance measures were compared between the CNV and control groups.

(B) 18 measures were significant after correction for a FWER <5%. Regression coefficients for duplication versus control (y axis) and deletion versus control (x axis) show that reciprocal CNVs have reciprocal effects on growth of the major craniofacial processes. The category “Other” represents features that span multiple processes. The 14 most informative facial features based on LASSO selection are drawn in (A) and colored by facial region according to the legend. For clarity, some nasal distances are excluded.

(C) Facial features associated with deletion and duplication were visualized as a computer-generated model face in which specific features were adjusted according to the observed effect sizes (from B and Table S2).

(D) The average surface topography was generated from multiple (>5) age-matched subjects with each genotype. Note that subtle differences in BMI are also apparent; however, these effects are controlled for in the statistical analysis and do not influence the feature selection.

Acknowledgments

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